ATRX R2188Q
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ATRX
Variant R2188Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX R2188Q lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2188Q has been identified in sequencing studies (PMID: 22416102, PMID: 22886134), 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 R2188Q

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000489.6
gDNA chrX:g.77557587C>T
cDNA c.6563G>A
Protein p.R2188Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489 chrX:g.77557587C>T c.6563G>A p.R2188Q RefSeq GRCh38/hg38
NM_138270.3 chrX:g.77557473_77557474delAGinsCA c.6562_6563delAGinsCA p.R2188Q RefSeq GRCh38/hg38
NM_138270.5 chrX:g.77557473_77557474delAGinsCA c.6562_6563delAGinsCA p.R2188Q RefSeq GRCh38/hg38
NM_138270 chrX:g.77557473_77557474delCTinsTG c.6562_6563delAGinsCA p.R2188Q RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77557587C>T c.6563G>A p.R2188Q RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77557587C>T c.6563G>A p.R2188Q 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ATRX R2188Q unknown