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Gene | ERBB4 |
Variant | Q707E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ERBB4 Q707E lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). Q707E has been identified in sequencing studies (PMID: 25096233), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Sep 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ERBB4 mutant ERBB4 Q707E |
Transcript | NM_005235.3 |
gDNA | chr2:g.211624005G>C |
cDNA | c.2119C>G |
Protein | p.Q707E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005235.2 | chr2:g.211624005G>C | c.2119C>G | p.Q707E | RefSeq | GRCh38/hg38 |
NM_001042599.1 | chr2:g.211624005G>C | c.2119C>G | p.Q707E | RefSeq | GRCh38/hg38 |
NM_001042599.1 | chr2:g.211624005G>C | c.2119C>G | p.Q707E | RefSeq | GRCh38/hg38 |
NM_005235.3 | chr2:g.211624005G>C | c.2119C>G | p.Q707E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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