Gene Variant Detail

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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

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Transcript NM_000135
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 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 chr16:g.89746848T>C c.3391A>G p.T1131A RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
FANCA T1131A unknown