ATRX R221K
Gene Variant Detail

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Gene ATRX
Variant R221K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX R221K lies within the ADD domain of the Atrx protein (UniProt.org). R221K has been identified in sequencing studies (PMID: 22886134, PMID: 23104868), 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 R221K

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Transcript NM_000489.6
gDNA chrX:g.77684939C>T
cDNA c.662G>A
Protein p.R221K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047442191.1 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_006724667 chrX:g.77684315C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_005262154.5 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_017029611 chrX:g.77684315C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_006724667.3 chrX:g.77684315C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_005262154 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_017029611.1 chrX:g.77684315C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_006724668 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
NM_000489 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77684939C>T c.662G>A p.R221K RefSeq GRCh38/hg38

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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