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Gene FANCA
Variant V372fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCA V372fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 372 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). V372fs has not been characterized, however, due to the effects of other truncation mutations downstream of V372 (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 V372fs

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Transcript NM_000135.4
gDNA chr16:g.(89792038_89792039)
cDNA c.(1114_1113)
Protein p.V372fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023046.1 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
NM_000135.3 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
NM_000135.4 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.(89792038_89792039) c.(1114_1113) p.V372fs RefSeq GRCh38/hg38

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