FANCA Q174H
Gene Variant Detail

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Gene FANCA
Variant Q174H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA Q174H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q174H demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.522G>C) leads to skipping of exon 5 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in a Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA Q174H

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Transcript NM_000135.4
gDNA chr16:g.89810707C>A
cDNA c.522G>T
Protein p.Q174H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023045.1 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_017023044 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_017023045 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_000135 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001018112 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_017023046 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_005256294 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_011522948 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001286167 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_011522945 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89810707C>A c.522G>T p.Q174H RefSeq GRCh38/hg38

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  • 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