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 | P1829L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX P1829L does not lie within any known functional domains of the Atrx protein (UniProt.org). P1829L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX P1829L |
Transcript | NM_000489.6 |
gDNA | chrX:g.77616693G>A |
cDNA | c.5486C>T |
Protein | p.P1829L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.77616693G>A | c.5486C>T | p.P1829L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATRX P1829L | unknown |