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| Gene | ERBB4 |
| Variant | M313I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ERBB4 M313I lies within the extracellular domain of the Erbb4 protein (UniProt.org). M313I has been identified in sequencing studies (PMID: 19718025), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 M313I |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211713593C>G |
| cDNA | c.939G>C |
| Protein | p.M313I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005235.2 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246377.3 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| NM_001042599 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_006712364.3 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246377.4 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246376 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246376.4 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| NM_005235 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_006712364.4 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_006712364 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246376.3 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| XM_005246377 | chr2:g.211713593C>G | c.939G>C | p.M313I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB4 M313I | unknown |