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Gene | FANCL |
Variant | A192G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL A192G lies within the UBC-RWD region of the Fancl protein (UniProt.org). A192G results in decreased Fancd2 binding, but demonstrates Fancd2 ubiquitination activity comparable to wild-type protein 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 A192G |
Transcript | NM_018062.4 |
gDNA | chr2:g.58165840G>C |
cDNA | c.575C>G |
Protein | p.A192G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_011532940.3 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_011532940.4 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_047444855.1 | chr2:g.58162888G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_017004414.2 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_011532940 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
NM_001374615.1 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_017004414 | chr2:g.58194239G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58165840G>C | c.575C>G | p.A192G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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