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Gene | FANCL |
Variant | M247V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCL M247V lies within the UBC-RWD region of the Fancl protein (UniProt.org). M247V results in decreased Fancd2 binding and ubiquitination in in vitro assays, 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 M247V |
Transcript | NM_018062.4 |
gDNA | chr2:g.58163470T>C |
cDNA | c.739A>G |
Protein | p.M247V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062.4 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58163470T>C | c.739A>G | p.M247V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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