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Gene | FANCA |
Variant | Q993* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA Q993* results in a premature truncation of the Fanca protein at amino acid 993 of 1455 (UniProt.org). Q993* has not been characterized, however, due to the effects of other truncation mutations downstream of Q993 (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 Q993* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89758581G>A |
cDNA | c.2977C>T |
Protein | p.Q993* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89758581G>A | c.2977C>T | p.Q993* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA Q993* | loss of function - predicted |