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Gene Symbol BRIP1
Synonyms BACH1 | FANCJ | OF
Gene Description BRIP1, BRCA1 interacting protein C-terminal helicase 1, is involved in DNA repair and aids the tumor suppressor function of Brca1 (PMID: 14983014). BRIP1 germline mutations are associated with breast and ovarian cancers and somatic mutations are highest in endometrial, colon, and NSCLC (PMID: 27283171), while expression may promote breast cancer cell invasion (PMID: 32888398).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
83990 17 17q23.2 NM_032043 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1167V missense unknown BRIP1 A1167V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A1167V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
A349P missense loss of function BRIP1 A349P lies within the Fe-S domain of the Brip1 protein (PMID: 20639400). A349P demonstrates ATPase activity and single stranded DNA translocation similar to wild-type Brip1, however, fails to destabilize DNA-bound protein, and results in reduced iron binding and loss of DNA helicase activity (PMID: 20639400, PMID: 16973432), and leads to reduced protein stability, chromosomal aberrations, alterations in the cell cycle, and failure to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495).
A521V missense unknown BRIP1 A521V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A521V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2023).
A551V missense unknown BRIP1 A551V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A551V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
A745P missense unknown BRIP1 A745P does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745P has been identified in sequencing studies (PMID: 25122427), but has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
A745T missense no effect - predicted BRIP1 A745T does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745T does not result in chromosomal aberrations, leads to cell cycle effects similar to wild-type Brip1 upon treatment with DNA damaging agents, and demonstrates resistance to mitomycin treatment in BRIP1-deficient cells in culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
A745V missense unknown BRIP1 A745V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
A776S missense unknown BRIP1 A776S does not lie within any known functional domains of the Brip1 protein (UniProt.org). A776S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
A89V missense unknown BRIP1 A89V lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). A89V confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
amp none no effect BRIP1 amplification indicates an increased number of copies of the BRIP1 gene. However, the mechanism causing the increase is unspecified.
C283H missense loss of function BRIP1 C283H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283H confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, and failure to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
C283R missense loss of function BRIP1 C283R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283R confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
C283S missense loss of function BRIP1 C283S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283S confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
C350F missense loss of function - predicted BRIP1 C350F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C350F does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
C832Y missense loss of function - predicted BRIP1 C832Y lies within the helicase domain VI of the Brip1 protein (PMID: 20639400). C832Y demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
D1120A missense unknown BRIP1 D1120A does not lie within any known functional domains of the Brip1 protein (UniProt.org). D1120A has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
D184Y missense unknown BRIP1 D184Y lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). D184Y is predicted to result in abnormal splicing with skipping of exon 5 in a patient sample (PMID: 30230034), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
D393V missense loss of function - predicted BRIP1 D393V lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). D393V does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
D674Y missense unknown BRIP1 D674Y does not lie within any known functional domains of the Brip1 protein (UniProt.org). D674Y has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
D736H missense unknown BRIP1 D736H does not lie within any known functional domains of the Brip1 protein (UniProt.org). D736H has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
D753N missense unknown BRIP1 D753N does no lie within any known functional domains of the Brip1 protein (UniProt.org). D753N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jan 2024).
D770E missense unknown BRIP1 D770E does not lie within any known functional domains of the Brip1 protein (UniProt.org). D770E has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
D791V missense unknown BRIP1 D791V does not lie within any known functional domains of the Brip1 protein (UniProt.org). D791V leads to chromosomal aberrations, alterations in cell cycle progression, and reduced protein stability, however, partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), and therefore, its effect on Brip1 protein function is unknown.
D898N missense unknown BRIP1 D898N lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). D898N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
del deletion loss of function BRIP1 del indicates a deletion of the BRIP1 gene.
E1097* nonsense unknown BRIP1 E1097* results in a premature truncation of the Brip1 protein at amino acid 1097 of 1249 (UniProt.org). E1097* has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
E1145A missense unknown BRIP1 E1145A does not lie within any known functional domains of the Brip1 protein (UniProt.org). E1145A confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
E387* nonsense loss of function - predicted BRIP1 E387* results in a premature truncation of the Brip1 protein at amino acid 387 of 1249 (UniProt.org). E387* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
E404K missense unknown BRIP1 E404K lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). E404K has been identified in sequencing studies (PMID: 30075702), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
E501* nonsense loss of function - predicted BRIP1 E501* results in a premature truncation of the Brip1 protein at amino acid 501 of 1249 (UniProt.org). E501* has not been characterized, however, due to the effects of other truncation mutations downstream of E501 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
E511G missense unknown BRIP1 E511G does not lie within any known functional domains of the Brip1 protein (UniProt.org). E511G partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
E626K missense loss of function - predicted BRIP1 E626K does not lie within any known functional domains of the Brip1 protein (UniProt.org). E626K does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
E636K missense unknown BRIP1 E636K does not lie within any known functional domains of the Brip1 protein (UniProt.org). E636K demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
E718V missense unknown BRIP1 E718V does not lie within any known functional domains of the Brip1 protein (UniProt.org). E718V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
E726* nonsense loss of function - predicted BRIP1 E726* results in a premature truncation of the Brip1 protein at amino acid 726 of 1249 (UniProt.org). E726* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
E795* nonsense loss of function - predicted BRIP1 E795* results in a premature truncation of the Brip1 protein at amino acid 795 of 1249 (UniProt.org). E795* demonstrates resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), however, due to the effects of other truncation mutations downstream of E795 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
E81* nonsense loss of function - predicted BRIP1 E81* results in a premature truncation of the Brip1 protein at amino acid 81 of 1249 (UniProt.org). E81* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
F108S missense unknown BRIP1 F108S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). F108S has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
F366S missense loss of function - predicted BRIP1 F366S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). F366S does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
F600L missense unknown BRIP1 F600L does not lie within any known functional domains of the Brip1 protein (UniProt.org). F600L has been identified in sequencing studies (PMID: 24121792, PMID: 21822268, PMID: 32930150), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
F934V missense unknown BRIP1 F934V lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). F934V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
F993A missense loss of function BRIP1 F993A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). P991A confers a loss of function to the Brip1 protein as indicated by failure to interact with Brca1 and loss of Brip1 phosphorylation in culture (PMID: 14576433).
G224* nonsense loss of function - predicted BRIP1 G224* results in a premature truncation of the Brip1 protein at amino acid 224 of 1249 (UniProt.org). G224* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
G49* nonsense loss of function - predicted BRIP1 G49* results in a premature truncation of the Brip1 protein at amino acid 49 of 1249 (UniProt.org). G49* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
G49R missense loss of function - predicted BRIP1 G49R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). G49 does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
G51* nonsense loss of function - predicted BRIP1 G51* results in a premature truncation of the Brip1 protein at amino acid 51 of 1249 (UniProt.org). G51* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
G649S missense unknown BRIP1 G649S does not lie within any known functional domains of the Brip1 protein (UniProt.org). G649S demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
G690E missense loss of function BRIP1 G690E lies within the helicase domain IV of the Brip1 protein (PMID: 20639400). G690E demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495, PMID: 33619228).
G690R missense loss of function - predicted BRIP1 G690R does not lie within any known functional domains of the Brip1 protein (UniProt.org). G690R does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
G763C missense loss of function - predicted BRIP1 G763C does not lie within any known functional domains of the Brip1 protein (UniProt.org). G763C does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
H317Y missense unknown BRIP1 H317Y lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). H317Y has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
H396D missense loss of function BRIP1 H396D lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). H396D demonstrates loss of helicase activity and inefficient DNA binding and ATP hydrolysis compared to wildtype in an in vitro assay (PMID: 29788478) and does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to result in a loss of Brip1 protein function.
H587L missense no effect - predicted BRIP1 H587L does not lie within any known functional domains of the Brip1 protein (UniProt.org). H587L rescues mitomycin-induced DNA damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
I1218M missense unknown BRIP1 I1218M does not lie within any known functional domains of the Brip1 protein (UniProt.org). I1218M has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
I504fs frameshift loss of function - predicted BRIP1 I504fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 504 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). I504fs has not been characterized, however, due to the effects of other truncation mutations downstream of I504 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
I507M missense unknown BRIP1 I507M does not lie within any known functional domains of the Brip1 protein (UniProt.org). I507M has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
I691L missense unknown BRIP1 I691L lies within the helicase domain IV of the Brip1 protein (PMID: 20639400). I691L demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
I782V missense unknown BRIP1 I782V does not lie within any known functional domains of the Brip1 protein (UniProt.org). I782V partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
I983fs frameshift loss of function - predicted BRIP1 I983fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 983 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). I983fs has not been characterized, however, due to the effects of other truncation mutations downstream of I983 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
inact mut unknown loss of function BRIP1 inact mut indicates that this variant results in a loss of function of the Brip1 protein. However, the specific amino acid change has not been identified.
K1086N missense unknown BRIP1 K1086N does not lie within any known functional domains of the Brip1 protein (UniProt.org). K1086N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
K1146E missense unknown BRIP1 K1146E does not lie within any known functional domains of the Brip1 protein (UniProt.org). K1146E confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
K297R missense unknown BRIP1 K297R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). K297R has been identified in the scientific literature (PMID: 19127258, PMID: 29858219, PMID: 29458332), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
K479T missense unknown BRIP1 K479T does not lie within any known functional domains of the Brip1 protein (UniProt.org). K479T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
K52R missense loss of function BRIP1 K52R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). K52R confers a loss of function to the Brip1 protein as demonstrated by loss of helicase and ATPase activity (PMID: 14983014, PMID: 16116421) and failure to confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228).
K577E missense unknown BRIP1 K577E does not lie within any known functional domains of the Brip1 protein (UniProt.org). K577E has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
K703Ifs*3 frameshift loss of function - predicted BRIP1 K703Ifs*3 indicates a shift in the reading frame starting at amino acid 703 and terminating 3 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). K703Ifs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of K703 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
K752fs frameshift loss of function - predicted BRIP1 K752fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 752 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). K752fs has not been characterized, however, due to the effects of other truncation mutations downstream of K752 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
K797R missense unknown BRIP1 K797R does not lie within any known functional domains of the Brip1 protein (UniProt.org). K797R demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
K950T missense unknown BRIP1 K950T lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). K950T has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
K998Efs*60 frameshift loss of function BRIP1 K998Efs*60 indicates a shift in the reading frame starting at amino acid 998 and terminating 60 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). K998Efs*60 confers a loss of function to the Brip1 protein as demonstrated by reduced protein stability and impaired binding with Brca1 and Bard1 in cell culture (PMID: 18628483).
L134V missense unknown BRIP1 L134V lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L134V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
L195P missense unknown BRIP1 L195P lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L195P has been identified in sequencing studies (PMID: 28717660, PMID: 19935797, PMID: 26921362), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
L340F missense unknown BRIP1 L340F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340F retains the ability to suppress replisome-associated G-quadruplex (G4) structures and to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture, but results in reduced iron incorporation in an in vitro assay and decreased DNA helicase activity in culture (PMID: 32542039), and therefore, its effect on Brip1 protein function is unknown.
L340R missense loss of function - predicted BRIP1 L340R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340R does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
L347P missense loss of function - predicted BRIP1 L347P lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L347P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
L358P missense loss of function - predicted BRIP1 L358P lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L358P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
L392* nonsense loss of function - predicted BRIP1 L392* results in a premature truncation of the Brip1 protein at amino acid 392 of 1249 (UniProt.org). L392* has not been characterized, however, due to the effects of other truncation mutations downstream of L392 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
L415P missense loss of function - predicted BRIP1 L415P lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L415P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
L679F missense unknown BRIP1 L679F does not lie within any known functional domains of the Brip1 protein (UniProt.org). L679F has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
L717V missense unknown BRIP1 L717V does not lie within any known functional domains of the Brip1 protein (UniProt.org). L717V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
L844I missense no effect - predicted BRIP1 L844I does not lie within any known functional domains of the Brip1 protein (UniProt.org). L844I rescues mitomycin-induced DNA cross-linking damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
L860P missense loss of function - predicted BRIP1 L860P does not lie within any known functional domains of the Brip1 protein (UniProt.org). L860P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
loss unknown loss of function BRIP1 loss indicates loss of the BRIP1 gene, mRNA, and protein.
M299I missense unknown BRIP1 M299I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). The functional effect of M299I is conflicting, as it has been reported to confer a loss of Brip1 DNA helicase activity in one study (PMID: 14983014), and to enhance DNA helicase activity in other studies (PMID: 32542039, PMID: 17145708).
M620I missense unknown BRIP1 M620I does not lie within any known functional domains of the Brip1 protein (UniProt.org). M620I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
M620V missense unknown BRIP1 M620V does not lie within any known functional domains of the Brip1 protein (UniProt.org). M620V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
mutant unknown unknown BRIP1 mutant indicates an unspecified mutation in the BRIP1 gene.
N1057* nonsense unknown BRIP1 N1057* results in a premature truncation of the Brip1 protein at amino acid 1057 of 1249 (UniProt.org). N1057* has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
N196S missense unknown BRIP1 N196S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). N196S has been identified in the scientific literature (PMID: 26790966, PMID: 25266736, PMID: 26980737), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
N37I missense unknown BRIP1 N37I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). N37I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
N541fs frameshift loss of function - predicted BRIP1 N541fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 541 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). N541fs has not been characterized, however, due to the effects of other truncation mutations downstream of N541 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
N576Kfs*2 frameshift loss of function - predicted BRIP1 N576Kfs*2 indicates a shift in the reading frame starting at amino acid 576 and terminating two residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). N576Kfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of N576 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
P1246T missense unknown BRIP1 P1246T does not lie within any known functional domains of the Brip1 protein (UniProt.org). P1246T has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
P210H missense unknown BRIP1 P210H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P210H has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2023).
P351L missense unknown BRIP1 P351L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P351L confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
P47A missense loss of function - predicted BRIP1 P47A lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P47A results in a loss of ATPase (PMID: 11301010, PMID: 14983014) and helicase activity (PMID: 11301010, PMID: 14983014, PMID: 33028645), and leads to greater chromosomal aberrations and cell cycle effects compared to wild-type Brip1, but partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
P47L missense unknown BRIP1 P47L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P47L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
P727L missense unknown BRIP1 P727L does not lie within any known functional domains of the Brip1 protein (UniProt.org). P727L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
P727Q missense unknown BRIP1 P727Q does not lie within any known functional domains of the Brip1 protein (UniProt.org). P727Q has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
P785L missense loss of function - predicted BRIP1 P785L does not lie within any known functional domains of the Brip1 protein (UniProt.org). P785L does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
P991A missense loss of function BRIP1 P991A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). P991A confers a loss of function to the Brip1 protein as indicated by failure to interact with Brca1 and loss of Brip1 phosphorylation in culture (PMID: 14576433).
Q126* nonsense loss of function - predicted BRIP1 Q126* results in a premature truncation of the Brip1 protein at amino acid 126 of 1249 (UniProt.org). Q126* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q227* nonsense loss of function - predicted BRIP1 Q227* results in a premature truncation of the Brip1 protein at amino acid 227 of 1249 (UniProt.org). Q227* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q25* nonsense loss of function - predicted BRIP1 Q25* results in a premature truncation of the Brip1 protein at amino acid 25 of 1249 (UniProt.org). Q25* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q554Hfs*35 frameshift loss of function - predicted BRIP1 Q554Hfs*35 indicates a shift in the reading frame starting at amino acid 554 and terminating 35 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). Q554Hfs*35 has not been characterized, however, due to the effects of other truncation mutations downstream of Q554 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Q561* nonsense loss of function - predicted BRIP1 Q561* results in a premature truncation of the Brip1 protein at amino acid 561 of 1249 (UniProt.org). Q561* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q645* nonsense loss of function - predicted BRIP1 Q645* results in a premature truncation of the Brip1 protein at amino acid 645 of 1249 (UniProt.org). Q645* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q685* nonsense loss of function - predicted BRIP1 Q685* results in a premature truncation of the Brip1 protein at amino acid 685 of 1249 (UniProt.org). Q685* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q689* nonsense loss of function - predicted BRIP1 Q689* results in a premature truncation of the Brip1 protein at amino acid 689 of 1249 (UniProt.org). Q689* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Q740H missense no effect - predicted BRIP1 Q740H does not lie within any known functional domains of the Brip1 protein (UniProt.org). Q740H rescues mitomycin-induced DNA damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
Q815* nonsense loss of function - predicted BRIP1 Q815* results in a premature truncation of the Brip1 protein at amino acid 815 of 1249 (UniProt.org). Q815* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R1035C missense unknown BRIP1 R1035C lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). R1035C has been identified in sequencing studies (PMID: 28767289), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
R106C missense unknown BRIP1 R106C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R106C has been identified in sequencing studies (PMID: 27978560, PMID: 19935797, PMID: 35455885), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
R173C missense loss of function BRIP1 R173C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R173C confers a loss of function to the Brip1 protein as demonstrated by a loss of nuclear translocation in culture (PMID: 12569564).
R251H missense unknown BRIP1 R251H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R251H has been identified in sequencing studies (PMID: 29636988, PMID: 29030356), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
R261* nonsense loss of function - predicted BRIP1 R261* results in a premature truncation of the Brip1 protein at amino acid 261 of 1249 (UniProt.org). R261* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R264W missense unknown BRIP1 R264W lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R264W has been identified in sequencing studies (PMID: 27978560, PMID: 34602499, PMID: 26921362), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
R279Q missense loss of function BRIP1 R279Q lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R279Q confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, and failure to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
R419W missense unknown BRIP1 R419W lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R419W has been identified in the scientific literature (PMID: 30414346, PMID: 19935797), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
R439* nonsense loss of function - predicted BRIP1 R439* results in a premature truncation of the Brip1 protein at amino acid 439 of 1249 (UniProt.org). R439* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R581* nonsense loss of function - predicted BRIP1 R581* results in a premature truncation of the Brip1 protein at amino acid 581 of 1249 (UniProt.org). R581* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R707C missense unknown BRIP1 R707C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R707C confers a partial resistance to interstrand crosslinking agents in BRIP1-deficient cells in culture (PMID: 33619228), demonstrates inefficient DNA binding, reduced ATP hydrolysis, partially reduced helicase activity, and impaired dimerization, but retains the ability to unwind substrate at a reduced efficiency compared to wild-type protein in an in vitro assay (PMID: 29788478), and therefore, its effect on Brip1 protein function is unknown.
R762C missense unknown BRIP1 R762C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762C has been identified in sequencing studies (PMID: 29338072, PMID: 28235761, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Apr 2024).
R762H missense unknown BRIP1 R762H does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762H has been identified in sequencing studies (PMID: 30836094, PMID: 29338072, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
R762P missense loss of function - predicted BRIP1 R762P does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R777C missense loss of function - predicted BRIP1 R777C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R777C demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
R798* nonsense loss of function - predicted BRIP1 R798* results in a premature truncation of the Brip1 protein at amino acid 798 of 1249 (UniProt.org). R798* has not been characterized, however, due to the effects of other truncation mutations downstream of R798 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
R831K missense loss of function - predicted BRIP1 R831K does not lie within any known functional domains of the Brip1 protein (UniProt.org). R831K does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R836* nonsense loss of function - predicted BRIP1 R836* results in a premature truncation of the Brip1 protein at amino acid 836 of 1249 (UniProt.org). R836* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
R848H missense loss of function - predicted BRIP1 R848H does not lie within any known functional domains of the Brip1 protein (UniProt.org). R848H results in decreased helicase activity in an in vitro assay (PMID: 33028645), and therefore, is predicted to lead to a loss of Brip1 protein function.
R865W missense loss of function - predicted BRIP1 R865W does not lie within any known functional domains of the Brip1 protein (UniProt.org). R865W demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
S189L missense loss of function - predicted BRIP1 S189L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S189L does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S197F missense unknown BRIP1 S197F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S197F has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Apr 2024).
S206L missense unknown BRIP1 S206L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S206L has been identified in sequencing studies (PMID: 27545006, PMID: 26315354), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S38I missense unknown BRIP1 S38I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S38I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S407G missense no effect - predicted BRIP1 S407G lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S407G rescues mitomycin-induced DNA cross-linking damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
S601* nonsense loss of function - predicted BRIP1 S601* results in a premature truncation of the Brip1 protein at amino acid 601 of 1249 (UniProt.org). S601* has not been characterized, however, due to the effects of other truncation mutations downstream of S601 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
S601P missense unknown BRIP1 S601P does not lie within any known functional domains of the Brip1 protein (UniProt.org). S601P has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S614Y missense loss of function - predicted BRIP1 S614Y does not lie within any known functional domains of the Brip1 protein (UniProt.org). S614Y does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S618* nonsense loss of function - predicted BRIP1 S618* results in a premature truncation of the Brip1 protein at amino acid 618 of 1249 (UniProt.org). S618* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S624* nonsense loss of function - predicted BRIP1 S624* results in a premature truncation of the Brip1 protein at amino acid 624 of 1249 (UniProt.org). S624* has not been characterized, however, due to the effects of other truncation mutations downstream of S624 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
S624L missense unknown BRIP1 S624L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 27978560, PMID: 22810696, PMID: 22197931), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S644L missense unknown BRIP1 S644L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S644L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S653* nonsense loss of function - predicted BRIP1 S653* results in a premature truncation of the Brip1 protein at amino acid 653 of 1249 (UniProt.org). S653* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S697F missense loss of function - predicted BRIP1 S697F does not lie within any known functional domains of the Brip1 protein (UniProt.org). S697F does not confer resistance to interstrand crosslinking agents in a BRIP1 deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S697P missense loss of function - predicted BRIP1 S697P does not lie within any known functional domains of the Brip1 protein (UniProt.org). S697P does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S772* nonsense loss of function - predicted BRIP1 S772* results in a premature truncation of the Brip1 protein at amino acid 772 of 1249 (UniProt.org). S772* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S805* nonsense loss of function - predicted BRIP1 S805* results in a premature truncation of the Brip1 protein at amino acid 805 of 1249 (UniProt.org). S805* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
S861C missense unknown BRIP1 S861C does not lie within any known functional domains of the Brip1 protein (UniProt.org). S861C has been identified in the scientific literature (PMID: 30414346), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S913fs frameshift loss of function - predicted BRIP1 S913fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 913 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). S913fs has not been characterized, however, due to the effects of other truncation mutations downstream of S913 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
S919P missense unknown BRIP1 S919P lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S919P has been identified in the scientific literature (PMID: 29221171, PMID: 26790966, PMID: 28415781), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
S960T missense unknown BRIP1 S960T lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S960T confers a partial resistance to interstrand crosslinking agents compared to wild-type protein in BRIP1-deficient cells in culture (PMID: 33619228), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown.
S990A missense loss of function BRIP1 S990A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S990A maintains the ability to confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line (PMID: 33619228), but results in a loss of interaction with Brca, and inability to control G2-M checkpoint or rescue senescence in Brip1-deficient cells in culture (PMID: 14576433, PMID: 22137763).
T1020A missense unknown BRIP1 T1020A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). T1020A has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2024).
T252R missense loss of function - predicted BRIP1 T252R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). T252R does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
T266M missense unknown BRIP1 T266M lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). T266M has been identified in sequencing studies (PMID: 26401016, PMID: 34570441, PMID: 33910496), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
T48Qfs*7 frameshift loss of function - predicted BRIP1 T48Qfs*7 indicates a shift in the reading frame starting at amino acid 48 and terminating 7 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). T48Qfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of T48 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
T686A missense unknown BRIP1 T686A does not lie within any known functional domains of the Brip1 protein (UniProt.org). T686A has been identified in sequencing studies (PMID: 19935797), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
T997fs frameshift loss of function - predicted BRIP1 T997fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 997 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). T997fs has not been characterized, however, due to the effects of other truncation mutations downstream of T997 (PMID: 18628483), is predicted to result in a loss of Brip1 protein function.
V193I missense unknown BRIP1 V193I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). V193I has been identified in the scientific literature (PMID: 29458332, PMID: 26921362, PMID: 35240549), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
V341D missense loss of function - predicted BRIP1 V341D lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). V341D does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
V588L missense unknown BRIP1 V588L does not lie within any known functional domains of the Brip1 protein (UniProt.org). V588L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
V676E missense loss of function - predicted BRIP1 V676E does not lie within any known functional domains of the Brip1 protein (UniProt.org). V676E demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA damage in cell culture (PMID: 31822495), and therefore, is predicted to lead to a loss of Brip1 protein function.
V779I missense unknown BRIP1 V779I does not lie within any known functional domains of the Brip1 protein (UniProt.org). V779I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
W335L missense loss of function - predicted BRIP1 W335L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). W335L does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
W448* nonsense loss of function - predicted BRIP1 W448* results in a premature truncation of the Brip1 protein at amino acid 448 of 1249 (UniProt.org). W448* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
W863L missense unknown BRIP1 W863L does not lie within any known functional domains of the Brip1 protein (UniProt.org). W863L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
wild-type none no effect BRIP1 wild-type indicates that no mutation has been detected within the BRIP1 gene.
Y147* nonsense loss of function - predicted BRIP1 Y147* results in a premature truncation of the Brip1 protein at amino acid 147 of 1249 (UniProt.org). Y147* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Y353C missense unknown BRIP1 Y353C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). Y353C has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Mar 2024).
Y408Lfs*14 frameshift loss of function - predicted BRIP1 Y408Lfs*14 indicates a shift in the reading frame starting at amino acid 408 and terminating 14 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). Y408Lfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of Y408 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Y461* nonsense loss of function - predicted BRIP1 Y461* results in a premature truncation of the Brip1 protein at amino acid 461 of 1249 (UniProt.org). Y461* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Y822H missense unknown BRIP1 Y822H lies within the helicase domain VI of the Brip1 protein (PMID: 20639400). Y822H demonstrates reduced protein stability and partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495), and therefore, its effect on Brip1 protein function is unknown.