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Gene | FANCA |
Variant | Q286Rfs*10 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA Q286Rfs*10 indicates a shift in the reading frame starting at amino acid 286 and terminating 10 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q286Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of Q286 (PMID: 24349332, PMID: 30057198, 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 Q286Rfs*10 |
Transcript | NM_000135.4 |
gDNA | chr16:g.89799202delT |
cDNA | c.857delA |
Protein | p.Q286Rfs*10 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023045.1 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89799202delT | c.857delA | p.Q286Rfs*10 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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