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Gene | FANCA |
Variant | Q772Rfs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA Q772Rfs*5 indicates a shift in the reading frame starting at amino acid 772 and terminating 5 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q772Rfs*5 has not been characterized, however, due to the effects of other truncation mutations downstream of Q772 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA Q772fs FANCA Q772Rfs*5 |
Transcript | NM_000135.4 |
gDNA | chr16:g.89770167delT |
cDNA | c.2315delA |
Protein | p.Q772Rfs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522945 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89770167delT | c.2315delA | p.Q772Rfs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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