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@genomenon.com
| Gene | ERBB4 |
| Variant | E836K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 E836K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). E836K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 E836K |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211431082C>T |
| cDNA | c.2506G>A |
| Protein | p.E836K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017003578 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_005235 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| XM_017003581 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_001042599 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| XM_017003581.3 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| XM_017003578.3 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| XM_017003581.2 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211431082C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| XM_017003578.2 | chr2:g.211561962C>T | c.2506G>A | p.E836K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|