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Gene | FANCL |
Variant | F252L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL F252L lies within the UBC-RWD region of the Fancl protein (UniProt.org). F252L results in decreased Fancd2 ubiquitination in an in vitro assay, but binds Fancd2 to levels comparable to wild-type Fancl and rescues G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL F252L |
Transcript | NM_018062.4 |
gDNA | chr2:g.58163455A>G |
cDNA | c.754T>C |
Protein | p.F252L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062.3 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58163455A>G | c.754T>C | p.F252L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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