Gene Variant Detail

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Gene FANCA
Variant V230I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions FANCA V230I does not lie within any known functional domains of the Fanca protein (UniProt.org). V230I 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 V230I

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Transcript NM_000135.4
gDNA chr16:g.89805301C>T
cDNA c.688G>A
Protein p.V230I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522945.2 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_011522948 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023044 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_011522945 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_000135 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001286167 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_005256294 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001018112 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023045 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023046 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89805301C>T c.688G>A p.V230I RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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