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Gene | FANCA |
Variant | V697I |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FANCA V697I does not lie within any known functional domains of the Fanca protein (UniProt.org). V697I demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA V697I |
Transcript | NM_000135.4 |
gDNA | chr16:g.89771740C>T |
cDNA | c.2089G>A |
Protein | p.V697I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89771740C>T | c.2089G>A | p.V697I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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