ATRX R2197C
Gene Variant Detail

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Gene ATRX
Variant R2197C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX R2197C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2197C has been identified in sequencing studies (PMID: 25257301, PMID: 33056981, PMID: 36541551), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX R2197C

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Transcript NM_000489.6
gDNA chrX:g.77557561G>A
cDNA c.6589C>T
Protein p.R2197C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262154 chrX:g.77557472_77557474delCCTinsACA c.6589_6591delAGGinsTGT p.R2197C RefSeq GRCh38/hg38
XM_005262154.5 chrX:g.77557472_77557474delAGGinsTGT c.6589_6591delAGGinsTGT p.R2197C RefSeq GRCh38/hg38
NM_000489 chrX:g.77557561G>A c.6589C>T p.R2197C RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77557472_77557474delAGGinsTGT c.6589_6591delAGGinsTGT p.R2197C RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77557561G>A c.6589C>T p.R2197C RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77557561G>A c.6589C>T p.R2197C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries