Gene Variant Detail

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Gene FANCL
Variant E215Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCL E215Q lies within the UBC-RWD region of the Fancl protein (UniProt.org). E215Q results in a statistically insignificant decrease of Fancd2 binding and Fancd2 ubiquitination comparable to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FANCL mutant FANCL E215Q

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Transcript NM_018062.4
gDNA chr2:g.58165772C>G
cDNA c.643G>C
Protein p.E215Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264395.4 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_011532939.3 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
NM_018062.3 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_011532941.2 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_047444852.1 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
NM_018062 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_011532941 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_011532939.4 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_011532939 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
XM_005264395 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
NM_018062.4 chr2:g.58165772C>G c.643G>C p.E215Q RefSeq GRCh38/hg38
NM_001410792.1 chr2:g.58165832C>G c.643G>C p.E215Q RefSeq GRCh38/hg38

Filtering

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