FANCA R1011H
Gene Variant Detail

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Gene FANCA
Variant R1011H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA R1011H does not lie within any known functional domains of the Fanca protein (UniProt.org). R1011H has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA R1011H

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Transcript NM_000135.4
gDNA chr16:g.89752172C>T
cDNA c.3032G>A
Protein p.R1011H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
NM_000135 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
NM_001286167 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
XM_011522945 chr16:g.89749807_89749809delTCTinsATG c.3031_3033delAGAinsCAT p.R1011H RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89749807_89749809delAGAinsCAT c.3031_3033delAGAinsCAT p.R1011H RefSeq GRCh38/hg38
XM_017023044 chr16:g.89749807_89749809delTCTinsATG c.3031_3033delAGAinsCAT p.R1011H RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89749807_89749809delAGAinsCAT c.3031_3033delAGAinsCAT p.R1011H RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38
XM_005256294 chr16:g.89752172C>T c.3032G>A p.R1011H RefSeq GRCh38/hg38

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