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 | K1300R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX K1300R lies within the DAXX-interacting region of the Atrx protein (UniProt.org). K1300R has been identified in sequencing studies (PMID: 27147599), 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 K1300R |
Transcript | NM_000489.6 |
gDNA | chrX:g.77664689T>C |
cDNA | c.3899A>G |
Protein | p.K1300R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_005262153.5 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_005262153.6 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_005262153 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029604.3 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029604 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029611 | chrX:g.77654150T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029611.1 | chrX:g.77654150T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029603.1 | chrX:g.77663435T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029603 | chrX:g.77663435T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
XM_017029604.2 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|