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Gene | FANCA |
Variant | P615fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA P615fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 615 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). P615fs has not been characterized, however, due to the effects of other truncation mutations downstream of P615 (PMID: 24349332, PMID: 30057198, PMID: 33172906), is predicted to lead to a loss of Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA P615fs |
Transcript | NM_000135.4 |
gDNA | chr16:g.(89775799_89775800) |
cDNA | c.(1843_1842) |
Protein | p.P615fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.3 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.(89775799_89775800) | c.(1843_1842) | p.P615fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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