Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene EML4
Variant E127*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions EML4 E127* results in a premature truncation of the Eml4 protein at amino acid 127 of 981 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E127* is predicted to lead to a loss of Eml4 protein function.
Associated Drug Resistance
Category Variants Paths

EML4 mutant EML4 inact mut EML4 E127*

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.

Transcript NM_019063.5
gDNA chr2:g.42261161G>T
cDNA c.379G>T
Protein p.E127*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264268.3 chr2:g.42261161G>T c.379G>T p.E127* RefSeq GRCh38/hg38
NM_019063.4 chr2:g.42261161G>T c.379G>T p.E127* RefSeq GRCh38/hg38
NM_001410776.1 chr2:g.42261161G>T c.379G>T p.E127* RefSeq GRCh38/hg38
NM_019063.5 chr2:g.42261161G>T c.379G>T p.E127* RefSeq GRCh38/hg38
XM_005264267.1 chr2:g.42261161G>T c.379G>T p.E127* RefSeq GRCh38/hg38
XM_005264268.4 chr2:g.42261161G>T c.379G>T p.E127* 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References