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Gene | FANCA |
Variant | G501S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA G501S does not lie within any known functional domains of the Fanca protein (UniProt.org). G501S is a common Fanca polymorphism (PMID: 19012493, PMID: 14749703, PMID: 25885250), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA G501S |
Transcript | NM_000135.4 |
gDNA | chr16:g.89783072C>T |
cDNA | c.1501G>A |
Protein | p.G501S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89783072C>T | c.1501G>A | p.G501S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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