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Gene | FANCA |
Variant | Q326* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA Q326* results in a premature truncation of the Fanca protein at amino acid 326 of 1455 (UniProt.org). Q326* has not been characterized, however, due to the effects of other truncation mutations downstream of Q326 (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 Q326* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89795936G>A |
cDNA | c.976C>T |
Protein | p.Q326* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023046 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89795936G>A | c.976C>T | p.Q326* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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