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 | E991fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX E991fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 991 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E991fs is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX E991fs |
Transcript | NM_000489.6 |
gDNA | chrX:g.(77682285_77682286) |
cDNA | c.(2971_2970) |
Protein | p.E991fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724668 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_005262157.6 | chrX:g.(77682081_77682082) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_005262157 | chrX:g.(77682081_77682082) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029601 | chrX:g.(77682195_77682196) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
NM_000489.4 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029605.1 | chrX:g.(77682081_77682082) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_005262157.5 | chrX:g.(77682081_77682082) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029605 | chrX:g.(77682081_77682082) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029611 | chrX:g.(77681919_77681920) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029601.3 | chrX:g.(77682195_77682196) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029611.1 | chrX:g.(77681919_77681920) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.(77682285_77682286) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
XM_017029601.2 | chrX:g.(77682195_77682196) | c.(2971_2970) | p.E991fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|