Gene Variant Detail

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Gene FANCA
Variant G501S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA G501S does not lie within any known functional domains of the Fanca protein (UniProt.org). G501S is a common Fanca polymorphism (PMID: 19012493, PMID: 14749703, PMID: 25885250), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA G501S

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Transcript NM_000135.4
gDNA chr16:g.89783072C>T
cDNA c.1501G>A
Protein p.G501S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005256294 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_017023045 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_000135 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_001286167 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_011522945 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_017023044 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_011522948 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89783072C>T c.1501G>A p.G501S RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89783072C>T c.1501G>A p.G501S 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References