Gene Variant Detail

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Gene FANCA
Variant H913P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCA H913P does not lie within any known functional domains of the Fanca protein (UniProt.org). H913P results in cytoplasmic localization and intermediate mitochondrial activity as indicated by altered electron transport and ATP/AMP ratio in cultured cells (PMID: 29269525), and therefore, is predicted to lead to a loss of Fanca protein function.
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA H913P

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Transcript NM_000135.4
gDNA chr16:g.89764930T>G
cDNA c.2738A>C
Protein p.H913P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135.3 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89764930T>G c.2738A>C p.H913P RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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