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Gene | FANCL |
Variant | E289Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL E289Q lies within the UBC-RWD region of the Fancl protein (UniProt.org). E289Q results in decreased Fancd2 interaction, but demonstrates Fancd2 ubiquitination activity 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 E289Q |
Transcript | NM_018062.4 |
gDNA | chr2:g.58162904C>G |
cDNA | c.865G>C |
Protein | p.E289Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264395 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58162904C>G | c.865G>C | p.E289Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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