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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

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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

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References