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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

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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

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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