ATRX L595F
Gene Variant Detail

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Gene ATRX
Variant L595F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX L595F does not lie within any known functional domains of the Atrx protein (UniProt.org). L595F has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX L595F

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Transcript NM_000489.6
gDNA chrX:g.77683473G>A
cDNA c.1783C>T
Protein p.L595F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262154.5 chrX:g.77683384T>A c.1785A>T p.L595F RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
XM_005262154 chrX:g.77683384T>A c.1785A>T p.L595F RefSeq GRCh38/hg38
XM_006724668 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
NM_000489 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77683384T>A c.1785A>T p.L595F RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77683473G>A c.1783C>T p.L595F RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77683473G>A c.1783C>T p.L595F 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries