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Gene | FANCA |
Variant | T1131A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA T1131A does not lie within any known functional domains of the Fanca protein (UniProt.org). the functional effect of T1131A is conflicting as it demonstrates nuclear localization, Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), but in another study, results in impaired Fancd2 monoubiquitination (PMID: 28864460), and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA T1131A |
Transcript | NM_000135.4 |
gDNA | chr16:g.89746848T>C |
cDNA | c.3391A>G |
Protein | p.T1131A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.3 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89746848T>C | c.3391A>G | p.T1131A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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