ERBB3 V104L
Gene Variant Detail

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Gene ERBB3
Variant V104L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB3 (HER3) V104L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104L confers a gain of function to the Erbb3 (Her3) protein as demonstrated by increased phosphorylation of Erbb3 (Her3) and downstream signaling (PMID: 24909266, PMID: 38751013), increased colony formation, migration (PMID: 29954840), and proliferation in culture (PMID: 29954840, PMID: 38751013), and enhanced tumor growth in mouse models (PMID: 29954840).
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 act mut ERBB3 V104L

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Transcript NM_001982.4
gDNA chr12:g.56085070G>C
cDNA c.310G>C
Protein p.V104L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005915 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries