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 | V1418M |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FANCA V1418M does not lie within any known functional domains of the Fanca protein (UniProt.org). V1418M demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA V1418M |
Transcript | NM_000135.4 |
gDNA | chr16:g.89738890C>T |
cDNA | c.4252G>A |
Protein | p.V1418M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135 | chr16:g.89738890C>T | c.4252G>A | p.V1418M | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89738890C>T | c.4252G>A | p.V1418M | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89738890C>T | c.4252G>A | p.V1418M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|