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Gene | FANCL |
Variant | V287G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL V287G lies within the UBC-RWD region of the Fancl protein (UniProt.org). V287G results in improper folding of Fancl protein in an in vitro assay (PMID: 32420600), but has not been fully biochemically characterized, and therefore, its effect on Fancl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL V287G |
Transcript | NM_018062.4 |
gDNA | chr2:g.58162909A>C |
cDNA | c.860T>G |
Protein | p.V287G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062.3 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58162909A>C | c.860T>G | p.V287G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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