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| Gene | ERBB3 |
| Variant | E1261A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ERBB3 (HER3) E1261A lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). The functional effect of E1261A is conflicting as it demonstrates cell proliferation levels similar to wild-type Erbb3 (Her3) in ER-positive breast cancer cells, but results in both increased cell proliferation and Erbb3 (Her3) phosphorylation relative to wild-type in Erbb2 (Her2)-overexpressing breast cancer cells (PMID: 29963236), and therefore, its effect on Erbb3 (Her3) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 E1261A |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56101808A>C |
| cDNA | c.3782A>C |
| Protein | p.E1261A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.4 | chr12:g.56101808A>C | c.3782A>C | p.E1261A | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56101808A>C | c.3782A>C | p.E1261A | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56101808A>C | c.3782A>C | p.E1261A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ERBB3 E1261A | unknown |