ATRX E2172G
Gene Variant Detail

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Gene ATRX
Variant E2172G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX E2172G lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172G has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX E2172G

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Transcript NM_000489.6
gDNA chrX:g.77557635T>C
cDNA c.6515A>G
Protein p.E2172G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724667 chrX:g.77523307T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_017029610.1 chrX:g.77523265T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_006724666.5 chrX:g.77557518T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_017029610 chrX:g.77523265T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_005262155 chrX:g.77557518T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_006724667.3 chrX:g.77523307T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77557635T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_006724666 chrX:g.77557518T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_017029604.2 chrX:g.77523385T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
NM_000489 chrX:g.77557635T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_005262155.4 chrX:g.77557518T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_017029604 chrX:g.77523385T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77557635T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_017029604.3 chrX:g.77523385T>C c.6515A>G p.E2172G RefSeq GRCh38/hg38
XM_006724666.4 chrX:g.77557518T>C c.6515A>G p.E2172G 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