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Gene | FANCA |
Variant | S1264Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA S1264Y does not lie within any known functional domains of the Fanca protein (UniProt.org). S1264Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA S1264Y |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740841G>T |
cDNA | c.3791C>A |
Protein | p.S1264Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.3 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89740841G>T | c.3791C>A | p.S1264Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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