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Gene | FANCA |
Variant | K1283R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA K1283R does not lie within any known functional domains of the Fanca protein (UniProt.org). K1283R has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA K1283R |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740080T>C |
cDNA | c.3848A>G |
Protein | p.K1283R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89740080T>C | c.3848A>G | p.K1283R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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