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Gene | FANCA |
Variant | L1305F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA L1305F does not lie within any known functional domains of the Fanca protein (UniProt.org). L1305F fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA L1305F |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740015G>A |
cDNA | c.3913C>T |
Protein | p.L1305F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89740015G>A | c.3913C>T | p.L1305F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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