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Gene | ATRX |
Variant | R246L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX R246L lies within the ADD domain of the Atrx protein (UniProt.org). R246L demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX R246L |
Transcript | NM_000489.6 |
gDNA | chrX:g.77684519C>A |
cDNA | c.737G>T |
Protein | p.R246L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_005262154 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_005262154.6 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77684519C>A | c.737G>T | p.R246L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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