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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References