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 | ERBB4 |
Variant | R525S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ERBB4 R525S lies within the extracellular domain of the Erbb4 protein (UniProt.org). R525S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ERBB4 mutant ERBB4 R525S |
Transcript | NM_005235.3 |
gDNA | chr2:g.211679101G>T |
cDNA | c.1573C>A |
Protein | p.R525S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005246376.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_001042599.1 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_001042599.1 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_001042599 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246376 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246377.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
NM_005235.2 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_006712364.3 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
XM_005246376.4 | chr2:g.211679101G>T | c.1573C>A | p.R525S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|