FANCA K1283R
Gene Variant Detail

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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, May 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA K1283R

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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_000135.3 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_001286167.3 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
XM_005256294 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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References