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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 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX L595F |
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 |
---|---|---|---|---|---|
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 |
NM_000489.4 | chrX:g.77683473G>A | c.1783C>T | p.L595F | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77683473G>A | c.1783C>T | p.L595F | RefSeq | GRCh38/hg38 |
XM_005262154.5 | chrX:g.77683384T>A | c.1785A>T | p.L595F | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77683473G>A | c.1783C>T | p.L595F | RefSeq | GRCh38/hg38 |
XM_006724668.4 | 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_005262154 | chrX:g.77683384T>A | c.1785A>T | p.L595F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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