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Gene | FANCL |
Variant | L149V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL L149V lies within the UBC-RWD region of the Fancl protein (UniProt.org). L149V results in decreased Fancd2 binding, 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 L149V |
Transcript | NM_018062.4 |
gDNA | chr2:g.58204156A>C |
cDNA | c.445T>G |
Protein | p.L149V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001114636 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_017004415.2 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532942 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532942.4 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532940 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_017004415 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_001374615.1 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532940.4 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532939.3 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532940.3 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_047444852.1 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_011532942.3 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_017004414.2 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_017004414 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58204156A>C | c.445T>G | p.L149V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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