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Gene | FANCL |
Variant | R221W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCL R221W lies within the UBC-RWD region of the Fancl protein (UniProt.org). R221W results in decreased Fancl protein thermal stability, Fancd2 binding and ubiquitination in in vitro assays, and reduced ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL inact mut FANCL R221W |
Transcript | NM_018062.4 |
gDNA | chr2:g.58165754G>A |
cDNA | c.661C>T |
Protein | p.R221W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264395.4 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58165754G>A | c.661C>T | p.R221W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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