Gene Variant Detail

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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References