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