Gene Variant Detail

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Gene FANCA
Variant Q772*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions FANCA Q772* results in a premature truncation of the Fanca protein at amino acid 772 of 1455 (UniProt.org). Q772* confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA Q772*

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Transcript NM_000135.4
gDNA chr16:g.89770168G>A
cDNA c.2314C>T
Protein p.Q772*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023045 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_017023044 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_000135 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_005256294 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_001286167 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
XM_011522945 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89770168G>A c.2314C>T p.Q772* RefSeq GRCh38/hg38

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Sorting

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