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Gene | FANCA |
Variant | L1082P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA L1082P lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1082P results in impaired Fanca nuclear localization in cultured cells (PMID: 32002546), and therefore, is predicted to lead to a loss of Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA L1082P |
Transcript | NM_000135.4 |
gDNA | chr16:g.89748762A>G |
cDNA | c.3245T>C |
Protein | p.L1082P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89748762A>G | c.3245T>C | p.L1082P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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