ERBB4 M993I
Gene Variant Detail

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Gene ERBB4
Variant M993I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB4 M993I lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). M993I results in anchorage-independent growth in the presence of ligand but similar phosphorylation to wild-type Erbb4 in culture (PMID: 36860695), and therefore, is predicted to lead to a gain of Erbb4 protein function.
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 M993I

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Transcript NM_005235.3
gDNA chr2:g.211420597C>G
cDNA c.2979G>C
Protein p.M993I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005235.3 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
XM_017003580.2 chr2:g.211422040C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
XM_017003580.3 chr2:g.211422040C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211420597C>G c.2979G>C p.M993I 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.

Molecular Profile Protein Effect Treatment Approaches
ERBB4 M993I gain of function - predicted