Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ATRX |
Variant | E2246K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX E2246K lies within the MECP2-interacting region of the Atrx protein (UniProt.org). E2246K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX E2246K |
Transcript | NM_000489.6 |
gDNA | chrX:g.77523365C>T |
cDNA | c.6736G>A |
Protein | p.E2246K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.6 | chrX:g.77523365C>T | c.6736G>A | p.E2246K | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77523365C>T | c.6736G>A | p.E2246K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|