ATRX R1417L
Gene Variant Detail

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Gene ATRX
Variant R1417L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX R1417L does not lie within any known functional domains of the Atrx protein (UniProt.org). R1417L has been identified in sequencing studies (PMID: 22941188), 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 R1417L

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Transcript NM_000489.6
gDNA chrX:g.77654165C>A
cDNA c.4250G>T
Protein p.R1417L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489.4 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
NM_000489 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
XM_006724667.3 chrX:g.77652142_77652143delAGinsCT c.4249_4250delAGinsCT p.R1417L RefSeq GRCh38/hg38
XM_006724668 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
XM_006724667 chrX:g.77652142_77652143delCTinsAG c.4249_4250delAGinsCT p.R1417L RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77654165C>A c.4250G>T p.R1417L RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77654165C>A c.4250G>T p.R1417L 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries