FGFR1 E138* - Gene Variant Detail

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Gene FGFR1
Variant E138*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions FGFR1 E138* results in a premature truncation of the Fgfr1 protein at amino acid 138 of 822 (UniProt.org). E138* results in a loss of multiple functional domains (UniProt.org), but also results in similar cell proliferation and viability compared to wild-type Fgfr1 in culture (PMID: 29533785), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 E138*

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Transcript NM_023110.3
gDNA chr8:g.38428382C>A
cDNA c.412G>T
Protein p.E138*
Source Database RefSeq
Genome Build 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.