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Gene | FANCA |
Variant | W183A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA W183A lies within the hydrogen peroxide binding pocket of the Fanca protein (PMID: 11161829). W183A retains the ability to Fancg, but leads to an inability of Fanca to complement cellular sensitivity to mitomycin C in culture (PMID: 11161829). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA W183A |
Transcript | NM_000135.4 |
gDNA | chr16:g.89808342_89808343delTGinsGC |
cDNA | c.547_548delTGinsGC |
Protein | p.W183A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023045 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89808342_89808343delCAinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89808342_89808343delTGinsGC | c.547_548delTGinsGC | p.W183A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA W183A | loss of function |