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 | E1394Gfs*31 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA E1394Gfs*31 indicates a shift in the reading frame starting at amino acid 1394 and terminating 31 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). E1394Gfs*31 results in decreased Fancd2 ubiquitination and nuclear foci when in combination with FANCA R1400H (PMID: 33172906), but has not been individually characterized and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA E1394Gfs*31 |
Transcript | NM_000135.4 |
gDNA | chr16:g.89738963dupC |
cDNA | c.4180dupG |
Protein | p.E1394Gfs*31 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89738963dupC | c.4180dupG | p.E1394Gfs*31 | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89738963dupC | c.4180dupG | p.E1394Gfs*31 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|