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Gene | FANCA |
Variant | D694Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA D694Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D694Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA D694Y |
Transcript | NM_000135.4 |
gDNA | chr16:g.89771749C>A |
cDNA | c.2080G>T |
Protein | p.D694Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023044 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89771749C>A | c.2080G>T | p.D694Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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