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Gene ATRX
Variant R2111*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions ATRX R2111* results in a premature truncation of the Atrx protein at amino acid 2111 of 2492 (UniProt.org). R2111* has been identified in sequencing studies (PMID: 24705251), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX R2111*

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Transcript NM_000489.6
gDNA chrX:g.77558842G>A
cDNA c.6331C>T
Protein p.R2111*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724666.4 chrX:g.77558725T>A c.6331A>T p.R2111* RefSeq GRCh38/hg38
XM_017029604 chrX:g.77557617_77557618delCGinsTA c.6331_6332delCGinsTA p.R2111* RefSeq GRCh38/hg38
XM_017029604.2 chrX:g.77557617_77557618delCGinsTA c.6331_6332delCGinsTA p.R2111* RefSeq GRCh38/hg38
XM_006724666 chrX:g.77558725T>A c.6331A>T p.R2111* RefSeq GRCh38/hg38
XM_006724666.5 chrX:g.77558725T>A c.6331A>T p.R2111* RefSeq GRCh38/hg38
XM_017029606.2 chrX:g.77557588G>A c.6331C>T p.R2111* RefSeq GRCh38/hg38
XM_005262155 chrX:g.77558725T>A c.6331A>T p.R2111* RefSeq GRCh38/hg38
XM_017029606 chrX:g.77557588G>A c.6331C>T p.R2111* RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77558842G>A c.6331C>T p.R2111* RefSeq GRCh38/hg38
XM_005262155.4 chrX:g.77558725T>A c.6331A>T p.R2111* RefSeq GRCh38/hg38
XM_017029604.3 chrX:g.77557617_77557618delCGinsTA c.6331_6332delCGinsTA p.R2111* RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77558842G>A c.6331C>T p.R2111* RefSeq GRCh38/hg38
NM_000489 chrX:g.77558842G>A c.6331C>T p.R2111* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References