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Gene Symbol HNF1A
Synonyms HNF-1A | HNF1 | HNF4A | IDDM20 | LFB1 | MODY3 | TCF-1 | TCF1
Gene Description HNF1A, HNF1 homeobox A, is a transcription factor that demonstrates tumor suppressor activity and plays a role in hepatocyte differentiation and glucose transport (PMID: 25233928, PMID: 26855178, PMID: 25076298). HNF1A inactivating mutations are associated with hepatic adenomas (PMID: 25076298) and may be associated with pancreatic tumorigenesis (PMID: 32154941).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A116V missense unknown HNF1A A116V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of A116V is conflicting, as A116V results in decreased transcriptional activation as well as unaffected transcriptional activation of target genes in luciferase assays, and demonstrates decreased protein expression level in cell culture and impaired DNA binding in an in vitro assay (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
A160D missense unknown HNF1A A160D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A160D has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
A161T missense unknown HNF1A A161T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A161T has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
A174V missense unknown HNF1A A174V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of A174V is conflicting, as it results in both decreased and unaffected transcriptional activation of target genes in luciferase assays, and demonstrates DNA binding ability, nuclear localization, and protein expression level comparable to wild-type Hnf1a in cell culture (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
A239V missense unknown HNF1A A239V lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). A239V has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
A276D missense loss of function HNF1A A276D lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). A276D demonstrates DNA binding activity and protein expression level comparable to wild-type Hnf1a, results in impaired nuclear localization in cell culture, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
A311D missense no effect - predicted HNF1A A311D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A311D demonstrates increased protein expression, demonstrates nuclear localization comparable to wild-type Hnf1a in cell culture, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
A326S missense unknown HNF1A A326S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A326S has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
A326V missense loss of function HNF1A A326V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A326V demonstrates nuclear localization and DNA binding ability comparable to wild-type Hnf1a, but results in decreased protein expression in cell culture and reduced transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
A532T missense unknown HNF1A A532T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A532T has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
A586T missense unknown HNF1A A586T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of A586T is conflicting, as A586T results in decreased transcriptional activation as well as increased transcriptional activation of different target genes in luciferase assays, and demonstrates protein expression level and nuclear localization comparable to wild-type Hnf1a in cell culture (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
A97V missense loss of function HNF1A A97V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). A97V demonstrates protein expression level and nuclear localization comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
A98V missense unknown HNF1A A98V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of A98V is conflicting, as A98V results in decreased as well as increased transcriptional activation of target genes in luciferase assays, demonstrates variable effects on nuclear localization and protein expression level in cell cultrue (PMID: 32910913, PMID: 27899486), and increased DNA binding in an in vitro assay (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
act mut unknown gain of function HNF1A act mut indicates that this variant results in a gain of function in the Hnf1a protein. However, the specific amino acid change has not been identified.
D135N missense unknown HNF1A D135N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D135N has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
D192Gfs*2 frameshift loss of function - predicted HNF1A D192Gfs*2 indicates a shift in the reading frame starting at amino acid 192 and terminating 2 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), D192Gfs*2 is predicted to lead to a loss of Hnf1a protein function.
D526N missense loss of function HNF1A D526N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D526N demonstrates decreased protein expression level and increased nuclear localization of Hnf1a in cell culture, results in DNA binding similar to wild-type protein in an in vitro assay, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
D546G missense unknown HNF1A D546G does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D546G has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
D72Y missense no effect - predicted HNF1A D72Y does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D72Y demonstrates DNA binding activity in an in vitro assay and nuclear localization and protein expression level in cell culture comparable to wild-type Hnf1a, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
D75N missense unknown HNF1A D75N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D75N has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
D76N missense unknown HNF1A D76N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D76N has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
D80G missense unknown HNF1A D80G does not lie within any known functional domains of the Hnf1a protein (UniProt.org). D80G has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
del deletion loss of function HNF1A del indicates a deletion of the HNF1A gene.
E188D missense unknown HNF1A E188D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E188D has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E234K missense unknown HNF1A E234K lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). E234K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E329Q missense unknown HNF1A E329Q does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E329Q has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E41K missense unknown HNF1A E41K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E41K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E48K missense loss of function HNF1A E48K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E48K has been reported to demonstrate nuclear localization comparable to wild-type Hnf1a (PMID: 27899486) or impaired nuclear localization (PMID: 32910913) in cell culture, and results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 27899486, PMID: 32910913).
E48Pfs*106 frameshift loss of function - predicted HNF1A E48Pfs*106 indicates a shift in the reading frame starting at amino acid 48 and terminating 106 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), E48Pfs*106 is predicted to lead to a loss of Hnf1a protein function.
E508K missense loss of function - predicted HNF1A E508K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E508K maintains DNA binding in vitro, but results in impaired cellular localization, reduced expression, and decreased transcription in a reporter assay (PMID: 24915262), and therefore is predicted to result in a loss of Hnf1a protein function.
E56D missense unknown HNF1A E56D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E56D has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E79K missense unknown HNF1A E79K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E79K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
E95K missense unknown HNF1A E95K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). E95K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
F268I missense unknown HNF1A F268I lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). F268I has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
F464S missense unknown HNF1A F464S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). F464S has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G138N missense unknown HNF1A G138N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G138N has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G181A missense loss of function - predicted HNF1A G181A does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G181A demonstrates protein expression level comparable to wild-type Hnf1a, results in increased DNA binding in an in vitro assay, impaired nuclear localization in cell culture, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913), and therefore, is predicted to lead to a loss of Hnf1a protein function.
G253W missense unknown HNF1A G253W lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). G253W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G288R missense loss of function HNF1A G288R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G288R demonstrates protein expression and nuclear localization of Hnf1a comparable to wild-type Hnf1a in cell culture, but results in decreased DNA binding in an in vitro assay and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
G288W missense unknown HNF1A G288W does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G288W has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G292E missense unknown HNF1A G292E does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G292E has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G292Rfs*25 frameshift loss of function - predicted HNF1A G292Rfs*25 indicates a shift in the reading frame starting at amino acid 292 and terminating 25 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), G292Rfs*25 is predicted to lead to a loss of Hnf1a protein function.
G31D missense loss of function HNF1A G31D lies within the dimerization region of the Hnf1a protein (UniProt.org). G31D demonstrates DNA binding activity comparable to wild-type Hnf1a in an in vitro assay, results in decreased nuclear localization and protein expression in cell culture (PMID: 32910913), and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
G339S missense unknown HNF1A G339S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of G339S is conflicting as it results in both decreased and unaffected transcriptional activation of target genes in luciferase assays, and demonstrates nuclear localization and protein expression comparable to wild-type protein in cell culture (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown
G355S missense unknown HNF1A G355S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G355S has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G375Afs*9 frameshift unknown HNF1A G375Afs*9 indicates a shift in the reading frame starting at amino acid 375 and terminating 9 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). G375Afs*9 has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G40E missense unknown HNF1A G40E does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G40E has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G410E missense unknown HNF1A G410E does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G410E has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G410R missense unknown HNF1A G410R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G410R has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G47R missense no effect - predicted HNF1A G47R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G47R demonstrates nuclear localization comparable to wild-type Hnf1a and increased protein expression in cell culture, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
G51D missense unknown HNF1A G51D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G51D has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G52A missense loss of function HNF1A G52A does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G52A demonstrates protein expression level and nuclear localization comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
G554R missense unknown HNF1A G554R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G554R has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
G574S missense loss of function HNF1A G574S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G574S demonstrates protein expression and nuclear localization of Hnf1a comparable to wild-type Hnf1a in cell culture, results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
G606S missense no effect - predicted HNF1A G606S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). G606S results in decreased nuclear localization and increased protein expression in cell culture, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
H126Q missense unknown HNF1A H126Q does not lie within any known functional domains of the Hnf1a protein (UniProt.org). H126Q has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
H143Y missense unknown HNF1A H143Y lies within a DNA-interacting region of the Hnf1a protein (UniProt.org). H143Y has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
H469Y missense loss of function HNF1A H469Y does not lie within any known functional domains of the Hnf1a protein (UniProt.org). H469Y results in increased DNA binding in an in vitro assay, but demonstrates decreased nuclear localization and protein expression level in cell culture (PMID: 32910913), and results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
H514R missense loss of function HNF1A H514R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). H514R has been reported to demonstrate impaired nuclear localization (PMID: 27899486) or nuclear localization comparable to wild-type Hnf1a (PMID: 32910913), results in decreased protein expression in cell culture, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
H577D missense loss of function HNF1A H577D does not lie within any known functional domains of the Hnf1a protein (UniProt.org). H577D demonstrates nuclear localization of Hnf1a comparable to wild-type protein in cell culture (PMID: 27899486, PMID: 32910913), increased protein expression level, and results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
H582R missense unknown HNF1A H582R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). H582R has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
I27L missense unknown HNF1A I27L lies within the dimerization region of the Hnf1a protein (UniProt.org). I27L is a common Hnf1a polymorphism (PMID: 26608415, PMID: 29066969), but has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
I27M missense unknown HNF1A I27M lies within the dimerization region of the Hnf1a protein (UniProt.org). I27M has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
I449M missense unknown HNF1A I449M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). I449M has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
I524T missense no effect - predicted HNF1A I524T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). I524T demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
I575N missense no effect - predicted HNF1A I575N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). I575N demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
inact mut unknown loss of function HNF1A inact mut indicates that this variant results in a loss of function of the Hnf1a protein. However, the specific amino acid change has not been identified.
K120N missense unknown HNF1A K120N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). K120N has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
K23Rfs*9 frameshift loss of function - predicted HNF1A K23Rfs*9 indicates a shift in the reading frame starting at amino acid 23 and terminating 9 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), K23Rfs*9 is predicted to lead to a loss of Hnf1a protein function.
K273E missense unknown HNF1A K273E lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). K273E has been identified in sequencing studies (PMID: 32634742, PMID: 16496320, PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
K46N missense unknown HNF1A K46N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). K46N has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L254Q missense unknown HNF1A L254Q lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). L254Q has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L363P missense loss of function HNF1A L363P lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). L363P demonstrates protein expression level and nuclear localization of Hnf1a comparable to wild-type Hnf1a in cell culture, results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
L377Sfs*7 frameshift unknown HNF1A L377Sfs*7 indicates a shift in the reading frame starting at amino acid 377 and terminating 7 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). L377Sfs*7 has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L389V missense loss of function HNF1A L389V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L389V demonstrates protein expression level and nuclear localization of Hnf1a comparable to wild-type protein in cell culture (PMID: 32910913, PMID: 27899486), results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
L38P missense unknown HNF1A L38P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L38P has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L408I missense unknown HNF1A L408I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L408I has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L438P missense no effect - predicted HNF1A L438P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L438P demonstrates nuclear localization comparable to wild-type Hnf1a and increased protein expression level in cell culture, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
L518F missense loss of function HNF1A L518F does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L518F demonstrates protein expression level comparable to wild-type Hnf1a, results in decreased nuclear localization in cell culture, reduced DNA binding in an in vitro assay, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
L530P missense unknown HNF1A L530P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L530P has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L536F missense unknown HNF1A L536F does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L536F has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L565V missense no effect - predicted HNF1A L565V does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L565V demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
L584P missense no effect - predicted HNF1A L584P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L584P demonstrates nuclear localization comparable to wild-type Hnf1a and increased protein expression in cell culture, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
L611Afs*38 frameshift unknown HNF1A L611Afs*38 indicates a shift in the reading frame starting at amino acid 611 and terminating 38 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). L611Afs*38 has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
L86H missense loss of function HNF1A L86H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L86H results in increased DNA binding in an in vitro assay, but demonstrates reduced protein expression level and nuclear localization of Hnf1a in cell culture, and results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
L89P missense unknown HNF1A L89P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). L89P has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
M154I missense unknown HNF1A M154I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). M154I has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
M154T missense unknown HNF1A M154T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). M154T has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
M405L missense unknown HNF1A M405L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). M405L has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
M412T missense gain of function - predicted HNF1A M412T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). M412T demonstrates nuclear localization and protein expression level in cell culture comparable to wild-type Hnf1a, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
M490T missense loss of function - predicted HNF1A M490T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). M490T results in decreased transcription in a reporter assay (PMID: 24915262), and therefore, is predicted to result in a loss of Hnf1a protein function.
mutant unknown unknown HNF1A mutant indicates an unspecified mutation in the HNF1A gene.
N237S missense unknown HNF1A N237S lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). N237S has been identified in sequencing studies (PMID: 26961851, PMID: 24735922, PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
N397S missense no effect - predicted HNF1A N397S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). N397S demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, and results in transcriptional activation of target genes similar to wild-type protein in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
N428K missense unknown HNF1A N428K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). N428K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
N62S missense unknown HNF1A N62S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of N62S is conflicting as it results in both decreased and unaffected transcriptional activation of target genes in luciferase assays (PMID: 27899486, PMID: 32910913), and demonstrates decreased nuclear localization in cell culture and impaired DNA binding in an in vitro assay (PMID: 32910913).
P112L missense loss of function HNF1A P112L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P112L results in decreased protein expression and nuclear localization of Hnf1a in cell culture, reduced DNA binding in in vitro assays, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 24915262, PMID: 30507613, PMID: 32910913).
P153H missense unknown HNF1A P153H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P153H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P289Afs*28 frameshift loss of function - predicted HNF1A P289Afs*28 indicates a shift in the reading frame starting at amino acid 289 and terminating 28 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), P289Afs*28 is predicted to lead to a loss of Hnf1a protein function.
P290H missense loss of function HNF1A P290H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P290H demonstrates protein expression level comparable to wild-type protein, increased nuclear localization of Hnf1a in cell culture, but decreased transcriptional activation of target genes in luciferase assays (PMID: 32910913).
P291Q missense no effect - predicted HNF1A P291Q does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P291Q demonstrates nuclear localization comparable to wild-type Hnf1a and increased protein expression level in cell culture, retains DNA binding activity in an in vitro assay and transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
P291Qfs*51 frameshift loss of function - predicted HNF1A P291Qfs*51 indicates a shift in the reading frame starting at amino acid 291 and terminating 51 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), P291Qfs*51 is predicted to lead to a loss of Hnf1a protein function.
P291S missense unknown HNF1A P291S lies within the transactivation domain of the Hnf1a protein (PMID: 20132997). P291S has not been characterized and therefore, its effect on Hnf1a protein function is unknown (Pubmed, Nov 2020).
P314R missense unknown HNF1A P314R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P314R has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P334H missense loss of function HNF1A P334H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P334H demonstrates protein expression level and nuclear localization comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
P340A missense loss of function HNF1A P340A lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). P340A demonstrates protein expression level and nuclear localization of Hnf1a comparable to wild-type Hnf1a in cell culture, results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
P340L missense unknown HNF1A P340L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P340L has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P347S missense unknown HNF1A P347S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P347S has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P379S missense unknown HNF1A P379S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P379S has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P379T missense loss of function HNF1A P379T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P379T demonstrates DNA binding ability and nuclear localization of Hnf1a comparable to wild-type protein, but results in decreased protein expression in culture and reduced transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
P43T missense no effect - predicted HNF1A P43T does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P43T demonstrates increased protein expression level and unaffected nuclear localization of Hnf1a in cell culture, results in DNA binding activity comparable to wild-type protein in an in vitro assay, and transcriptional activation of target genes comparable to wild-type protein in luciferase assays (PMID: 32910913).
P447L missense loss of function HNF1A P447L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P447L results in decreased transcriptional activation in luciferase reporter assays (PMID: 24915262, PMID: 32910913), and decreased Hnf1a protein expression in cell culture (PMID: 32910913).
P475L missense loss of function HNF1A P475L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P475L leads to reduced BCL2L1 transactivation in a reporter assay, and demonstrates predominant nuclear localization, induced cell cycle arrest, and reduced cell growth in culture (PMID: 32684311).
P519L missense loss of function HNF1A P519L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P519L demonstrates increased nuclear localization of Hnf1a, but results in decreased protein expression in cell culture and reduced activation of known target genes in luciferase assays (PMID: 32910913).
P568L missense unknown HNF1A P568L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P568L has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P61L missense unknown HNF1A P61L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P61L has been identified in sequencing studies (PMID: 25589618), but has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
P94H missense unknown HNF1A P94H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P94H has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q100K missense loss of function HNF1A Q100K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q100K has been reported to demonstrate impaired nuclear localization (PMID: 32910913) or nuclear localization comparable to wild-type Hnf1a (PMID: 27899486), results in decreased DNA binding in an in vitro assay, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 27899486, PMID: 32910913).
Q141R missense unknown HNF1A Q141R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q141R has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q175R missense no effect - predicted HNF1A Q175R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q175R demonstrates nuclear localization comparable to wild-type Hnf1a and increased protein expression level in cell culture, results in increased DNA binding in an in vitro assay, and transcriptional activation of known target genes comparable to wild-type protein in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
Q28* nonsense loss of function - predicted HNF1A Q28* results in a premature truncation of the Hnf1a protein at amino acid 28 of 631 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q28* is predicted to lead to a loss of Hnf1a protein function.
Q466* nonsense loss of function HNF1A Q466* results in a premature truncation of the Hnf1a protein at amino acid 466 of 631 (UniProt.org). Q466* demonstrates decreased nuclear localization of Hnf1a (PMID: 12574234, PMID: 27899486) in cell culture, impaired DNA binding ability in an in vitro assay (PMID: 12574234), and decreased transcriptional activation of target genes in luciferase assays (PMID: 27899486, PMID: 32910913).
Q486R missense loss of function HNF1A Q486R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q486R demonstrates protein expression and nuclear localization comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
Q495* nonsense unknown HNF1A Q495* results in a premature truncation of the Hnf1a protein at amino acid 495 of 631 (UniProt.org). Q495* has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q511L missense loss of function HNF1A Q511L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q511L results in decreased Hnf1a transcriptional activity and nuclear localization, and leads to decreased inhibition of cell migration compared to wild-type Hnf1a in cultured cells (PMID: 29101032).
Q561* nonsense unknown HNF1A Q561* results in a premature truncation of the Hnf1a protein at amino acid 561 of 631 (UniProt.org). Q561* has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q561E missense unknown HNF1A Q561E does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q561E has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q570K missense unknown HNF1A Q570K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q570K has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q570Pfs*79 frameshift unknown HNF1A Q570Pfs*79 indicates a shift in the reading frame starting at amino acid 570 and terminating 79 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). Q570Pfs*79 has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q576P missense unknown HNF1A Q576P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Q576P has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Q7K missense unknown HNF1A Q7K lies within the dimerization region of the Hnf1a protein (UniProt.org). Q7K has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R114C missense unknown HNF1A R114C does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R114C has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R114H missense no effect HNF1A R114H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R114H does not demonstrate substantial decrease in Hnf1a transactivation activity or nuclear localization compared to wild-type Hnf1a in culture (PMID: 27899486).
R114L missense unknown HNF1A R114L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R114L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R131L missense unknown HNF1A R131L lies within a DNA-interacting region of the Hnf1a protein (UniProt.org). R131L has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R131Q missense loss of function HNF1A R131Q lies within a DNA-interacting region of the Hnf1a protein (UniProt.org). R131Q results in decreased nuclear localization of Hnf1a, reduced Hnf1a transactivation activity in culture (PMID: 27899486, PMID: 10585442, PMID: 32910913), and decreased DNA binding in an in vitro assay (PMID: 32910913).
R131W missense loss of function HNF1A R131W lies within the DNA-interacting region of the Hnf1a protein (UniProt.org). R131W results in aberrant subcellular localization of Hnf1a, impaired DNA binding, and decreased transcriptional activity in cell culture (PMID: 12574234).
R168C missense unknown HNF1A R168C does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R168C has been identified in the scientific literature (PMID: 15326484), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R171* nonsense loss of function - predicted HNF1A R171* results in a premature truncation of the Hnf1a protein at amino acid 171 of 631 (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), R171* is predicted to lead to a loss of Hnf1a protein function.
R171Q missense loss of function - predicted HNF1A R171Q does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R171Q demonstrates protein expression level and nuclear localization comparable to wild-type Hnf1a in cell culture, results in increased DNA binding in an in vitro assay, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913), and therefore, is predicted to lead to a loss of Hnf1a protein function.
R200Q missense unknown HNF1A R200Q lies within the HNF1-type homeobox region and nuclear localization signal motif of the Hnf1a protein (UniProt.org). R200Q has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R203H missense loss of function HNF1A R203H lies within the HNF1-type homeobox and DNA-interacting regions and nuclear localization signal motif of the Hnf1a protein (UniProt.org). R203H results in decreased nuclear localization of Hnf1a in cell culture (PMID: 32910913), reduced DNA binding in in vitro assays, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 30507613, PMID: 32910913).
R229* nonsense loss of function - predicted HNF1A R229* results in a premature truncation of the Hnf1a protein at amino acid 229 of 631 (UniProt.org). Due to the loss of the transactivation domain (PMID: 18003757), R229* is predicted to lead to a loss of Hnf1a protein function.
R229Q missense loss of function HNF1A R229Q lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R229Q results in a loss of function of the Hnf1a protein as indicated by decreased transcriptional activity in a reporter assay and decreased DNA binding in vitro (PMID: 24915262).
R244G missense unknown HNF1A R244G lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R244G has been identified in sequencing studies (PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R263G missense unknown HNF1A R263G lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R263G has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R271L missense unknown HNF1A R271L lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R271L has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R271Q missense loss of function HNF1A R271Q lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R271Q results in increased DNA binding, but decreased nuclear localization and transactivation activity compared to wild-type Hnf1a in culture (PMID: 26853433).
R271W missense loss of function HNF1A R271W lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R271W confers a loss of function on Hnf1a, as indicated by reduced DNA binding and transactivation activity in cell culture (PMID: 21170474).
R272S missense unknown HNF1A R272S lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R272S has been identified in sequencing studies (PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
R278Q missense loss of function - predicted HNF1A R278Q lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). R278Q demonstrates protein expression level and nuclear localization of Hnf1a comparable to wild-type Hnf1ain cell culture, results in increased DNA binding in an in vitro assay but decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913), and therefore, is predicted to lead to a loss of Hnf1a protein function.
R321C missense no effect - predicted HNF1A R321C does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R321C results in nuclear localization comparable to wild-type Hnf1a and increased protein expression in cell culture, retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
R321H missense no effect - predicted HNF1A R321H does not lie within any known functional domains of the Hnf1a protein (UniProt.org). R321H results in nuclear localization and protein expression comparable to wild-type Hnf1a in cell culture, and retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
R583Q missense unknown HNF1A R583Q does not lie within any known functional domains of the Hnf1a protein (UniProt.org). The functional effect of R583Q is conflicting as it demonstrates both impaired (PMID: 32910913) and unaffected (PMID: 27899486) nuclear localization of Hnf1a in cell culture, and results in both decreased and unaffected transcriptional activation of target genes in luciferase assays (PMID: 27899486, PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
S210T missense unknown HNF1A S210T lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). S210T has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S247T missense loss of function HNF1A S247T lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). S247T does not have an effect on Hnf1a nuclear localization, but results in decreased Hnf1a transactivation activity and increased cell proliferation and migration in cell culture (PMID: 27469031).
S352F missense unknown HNF1A S352F does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S352F has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S352Pfs*12 frameshift unknown HNF1A S352Pfs*12 indicates a shift in the reading frame starting at amino acid 352 and terminating 12 residues downstream causing a premature truncation of the 631 amino acid Hnf1a protein (UniProt.org). S352Pfs*12 has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S407L missense unknown HNF1A S407L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S407L has not been characterized in and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S445R missense unknown HNF1A S445R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S445R has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S487N missense no effect HNF1A S487N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S487N does not demonstrate substantial decrease in Hnf1a transactivation activity or nuclear localization compared to wild-type Hnf1a in culture (PMID: 27899486).
S535R missense loss of function HNF1A S535R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S535R demonstrates protein expression level comparable to wild-type protein, results in decreased nuclear localization of Hnf1a in cell culture, impaired DNA binding in an in vitro assay, and decreased transcriptional activation of target genes in luciferase assays (PMID: 32910913).
S574G missense unknown HNF1A S574G does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S574G has been identified in sequencing studies (PMID: 31936151), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S574N missense unknown HNF1A S574N does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S574N has been identified in sequencing studies (PMID: 21720365, PMID: 26674132), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S591Y missense unknown HNF1A S591Y does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S591Y has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
S592P missense loss of function HNF1A S592P does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S592P demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
S604R missense loss of function HNF1A S604R does not lie within any known functional domains of the Hnf1a protein (UniProt.org). S604R demonstrates protein expression level comparable to wild-type Hnf1a, but results in decreased nuclear localization in cell culture, and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
T10M missense unknown HNF1A T10M lies within the dimerization region of the Hnf1a protein (UniProt.org). T10M results in decreased expression of megalin and cubilin in cell culture (PMID: 27083284), but maintains protein localization, DNA binding, and transactivation in a reporter assay similar to wild-type (15th International Congress of Histochemistry and Cytochemistry, OP-25, May 2017), and therefore, its effect on Hnf1a protein function is unknown.
T137A missense unknown HNF1A T137A does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T137A has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T152S missense unknown HNF1A T152S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T152S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T156M missense no effect - predicted HNF1A T156M lies within a DNA-interacting region of the Hnf1a protein (UniProt.org). T156M demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, results in decreased DNA binding in an in vitro assay, but retains transcriptional activity in luciferase assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
T196A missense no effect HNF1A T196A does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T196A does not have an effect on DNA binding or transcriptional activity of Hnf1a in cell culture (PMID: 21170474, PMID: 27899486).
T231M missense unknown HNF1A T231M lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). T231M has been identified in sequencing studies (PMID: 29636988), but has not been biochemically characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T260M missense loss of function HNF1A T260M lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). T260M demonstrates nuclear localization comparable to wild-type Hnf1a (PMID: 32910913, PMID: 30507613), but results in decreased protein expression in culture and reduced transcriptional activation of known target genes in luciferase assays (PMID: 32910913), decreased DNA binding in an in vitro assay and altered gene signature in cell culture (PMID: 30507613).
T327I missense unknown HNF1A T327I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T327I has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T354M missense unknown HNF1A T354M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T354M has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T382I missense unknown HNF1A T382I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T382I results in increased DNA binding in an in vitro assay, increased nuclear localization of Hnf1a, but demonstrates decreased protein expression and reduced transcriptional activation of known target genes in luciferase assays (PMID: 32910913), and therefore, its effect on Hnf1a protein function is unknown.
T425M missense unknown HNF1A T425M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T425M has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T441K missense loss of function HNF1A T441K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T441K demonstrates protein expression level comparable to wild-type Hnf1a, but results in decreased nuclear localization in cell culture and decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
T485I missense unknown HNF1A T485I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T485I has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T513S missense loss of function HNF1A T513S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T513S demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
T515K missense loss of function HNF1A T515K does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T515K demonstrates increased nuclear localization and decreased protein expression level in cell culture, DNA binding ability comparable to wild-type Hnf1a in an in vitro assay (PMID: 32910913), and results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913, PMID: 27899486).
T537M missense no effect - predicted HNF1A T537M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T537M demonstrates decreased nuclear localization and increased protein expression of Hnf1a in cell culture, but results in transcriptional activation of known target genes comparable to wild-type Hnf1a in luciferase reporter assays (PMID: 32910913), and therefore, is predicted to have no effect on Hnf1a protein function.
T539A missense unknown HNF1A T539A does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T539A has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T589I missense unknown HNF1A T589I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T589I has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T589S missense unknown HNF1A T589S does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T589S has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T74M missense unknown HNF1A T74M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T74M has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
T82M missense loss of function HNF1A T82M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). T82M demonstrates nuclear localization and protein expression level comparable to wild-type Hnf1a in cell culture, DNA binding activity similar to wild-type protein in an in vitro assay, but results in decreased transcriptional activation of target genes in luciferase assays (PMID: 32910913).
V133M missense unknown HNF1A V133M does not lie within any known functional domains of the Hnf1a protein (UniProt.org). V133M results in variable effects on Hnf1a DNA-binding and transactivation activity in cultured cells (PMID: 21170474), and therefore, its effect on Hnf1a protein function is unknown.
V264I missense unknown HNF1A V264I lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). V264I has not been characterized in the scientific literature and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
V2A missense unknown HNF1A V2A lies within the dimerization region of the Hnf1a protein (UniProt.org). V2A has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
V462I missense loss of function HNF1A V462I does not lie within any known functional domains of the Hnf1a protein (UniProt.org). V462I demonstrates protein expression and nuclear localization of Hnf1a comparable to wild-type Hnf1a in cell culture, but results in decreased transcriptional activation of known target genes in luciferase assays (PMID: 32910913).
wild-type none no effect Wild-type HNF1A indicates that no mutation has been detected within the HNF1A gene.
Y218C missense unknown HNF1A Y218C lies within the HNF1-type homeobox region of the Hnf1a protein (UniProt.org). Y218C has been identified in sequencing studies (PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Y286F missense unknown HNF1A Y286F does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Y286F has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, Nov 2020).
Y322C missense loss of function HNF1A Y322C does not lie within any known functional domains of the Hnf1a protein (UniProt.org). Y322C demonstrates DNA binding ability comparable to wild-type Hnf1ain in an in vitro assay, but results in decreased protein expression in culture and reduced transcriptional activation of known target genes in luciferase assays (PMID: 27899486, PMID: 32910913).