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Gene | FANCL |
Variant | M305V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL M305V does not lie within any known functional domains of the Fancl protein (UniProt.org). M305V has not been characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL M305V |
Transcript | NM_018062.4 |
gDNA | chr2:g.58161629T>C |
cDNA | c.913A>G |
Protein | p.M305V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062.3 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58161629T>C | c.913A>G | p.M305V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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