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Gene | FANCL |
Variant | H375R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL H375R does not lie within any known functional domains of the Fancl protein (UniProt.org). H375R has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL H375R |
Transcript | NM_018062.4 |
gDNA | chr2:g.58159769T>C |
cDNA | c.1124A>G |
Protein | p.H375R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062 | chr2:g.58159769T>C | c.1124A>G | p.H375R | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58159769T>C | c.1124A>G | p.H375R | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58159769T>C | c.1124A>G | p.H375R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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