ERBB4 L780P
Gene Variant Detail

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Gene ERBB4
Variant L780P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ERBB4 L780P lies within the protein kinase domain of the Erbb4 protein (UniProt.org). L780P results in a loss of ligand-dependent phosphorylation of Erbb4 and downstream signaling, reduced ability to promote ligand-dependent cell growth, and is not transforming in culture (PMID: 33323455).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 inact mut ERBB4 L780P

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Transcript NM_005235.3
gDNA chr2:g.211562051A>G
cDNA c.2339T>C
Protein p.L780P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042599.1 chr2:g.211562051A>G c.2339T>C p.L780P RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211562051A>G c.2339T>C p.L780P RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211562051A>G c.2339T>C p.L780P RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211562051A>G c.2339T>C p.L780P 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