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 | E936G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA E936G does not lie within any known functional domains of the Fanca protein (UniProt.org). E936G confers a loss of function to Fanca, as indicated by failure to complement survival after mitomycin treatment in FANCA-deficient cells and decreased Fancd2 ubiquitylation in culture (PMID: 28215707). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA E936G |
Transcript | NM_000135.4 |
gDNA | chr16:g.89761994T>C |
cDNA | c.2807A>G |
Protein | p.E936G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89761994T>C | c.2807A>G | p.E936G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|