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Gene | ATRX |
Variant | T1928K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX T1928K does not lie within any known functional domains of the Atrx protein (UniProt.org). T1928K has been identified in sequencing studies (PMID: 26960398), 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 T1928K |
Transcript | NM_000489.6 |
gDNA | chrX:g.77599735G>T |
cDNA | c.5783C>A |
Protein | p.T1928K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77599735G>T | c.5783C>A | p.T1928K | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77599735G>T | c.5783C>A | p.T1928K | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77599735G>T | c.5783C>A | p.T1928K | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77599735G>T | c.5783C>A | p.T1928K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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