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Gene | FANCA |
Variant | R435C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA R435C does not lie within any known functional domains of the Fanca protein (UniProt.org). R435C confers a loss of function to the Fanca protein as demonstrated by impaired nuclear localization, decreased Fanca phosphorylation, reduced interaction with Fancc and Fancf, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA R435C |
Transcript | NM_000135.4 |
gDNA | chr16:g.89791459G>A |
cDNA | c.1303C>T |
Protein | p.R435C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522945.2 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89791459G>A | c.1303C>T | p.R435C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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