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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
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, Apr 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, Apr 2020).
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, Apr 2020).
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, Apr 2020).
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, Apr 2020).
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, Apr 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.
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, Apr 2020).
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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 2020).
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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 2020).
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, Apr 2020).
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, Apr 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, Apr 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.
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, Apr 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, Apr 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, Apr 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, Apr 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, Apr 2020).
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, Apr 2020).
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, Apr 2020).
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, Apr 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, Apr 2020).
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, Apr 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, Apr 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, Apr 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, Apr 2020).
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, Apr 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: 16496320, PMID: 20393147), but has not been biochemically characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, May 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, Apr 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, Apr 2020).
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, May 2020).
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, May 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, May 2020).
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, May 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, May 2020).
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, May 2020).
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, May 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, May 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, May 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, May 2020).
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, May 2020).
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, May 2020).
P112L missense loss of function - predicted HNF1A P112L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P112L results in decreased DNA binding in vitro (PMID: 24915262), and therefore is predicted to result in a loss of Hnf1a protein function.
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, May 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.
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, May 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, May 2020).
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, May 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, May 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, May 2020).
P447L missense loss of function - predicted HNF1A P447L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P447L results in decreased transcription in a reporter assay (PMID: 24915262), and therefore is predicted to result in a loss of Hnf1a protein function.
P475L missense unknown HNF1A P475L does not lie within any known functional domains of the Hnf1a protein (UniProt.org). P475L has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, May 2020).
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, May 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, May 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, May 2020).
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, May 2020).
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.
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, May 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, May 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, May 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, May 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, May 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, May 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, Apr 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, May 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, May 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, May 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 and reduced Hnf1a transactivation activity in culture (PMID: 27899486, PMID: 10585442).
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, May 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.
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, Apr 2020).
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 transcription 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, May 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, May 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, May 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, May 2020).
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, May 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, May 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, May 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, May 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, May 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).
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, May 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, May 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, May 2020).
T10M missense unknown HNF1A T10M lies within the dimerization region of the Hnf1a protein (UniProt.org). T10M has not been characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, May 2020).
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, May 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, May 2020).
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, Apr 2020).
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, May 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, May 2020).
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, May 2020).
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, May 2020).
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, May 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, May 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, May 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, May 2020).
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 (PubMed, May 2020).
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, May 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, Apr 2020).
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 characterized and therefore, its effect on Hnf1a protein function is unknown (PubMed, May 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, May 2020).