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Gene | FANCA |
Variant | A733P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA A733P does not lie within any known functional domains of the Fanca protein (UniProt.org). A733P confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA A733P |
Transcript | NM_000135.4 |
gDNA | chr16:g.89770589C>G |
cDNA | c.2197G>C |
Protein | p.A733P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023044 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89770589C>G | c.2197G>C | p.A733P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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