ATRX L2027R
Gene Variant Detail

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Gene ATRX
Variant L2027R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX L2027R lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). L2027R has been identified in sequencing studies (PMID: 22492626, PMID: 36835815), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX L2027R

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Transcript NM_000489.6
gDNA chrX:g.77593726A>C
cDNA c.6080T>G
Protein p.L2027R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489.4 chrX:g.77593726A>C c.6080T>G p.L2027R RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77593726A>C c.6080T>G p.L2027R RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77589884_77589885delTTinsAG c.6079_6080delTTinsAG p.L2027R 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References