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 | FANCL |
Variant | E217K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCL E217K lies within the UBC-RWD region of the Fancl protein (UniProt.org). E217K results in Fancd2 binding similar to wild-type Fancl, but decreased Fancd2 ubiquitination in an in vitro assay, and decreased ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL inact mut FANCL E217K |
Transcript | NM_018062.4 |
gDNA | chr2:g.58165766C>T |
cDNA | c.649G>A |
Protein | p.E217K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58165766C>T | c.649G>A | p.E217K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|