Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|