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Gene FGFR1
Variant R189H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R189H lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189H has been identified in sequencing studies (PMID: 29106415, PMID: 30885352), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R189H

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Transcript NM_023110.3
gDNA chr8:g.38427976C>T
cDNA c.566G>A
Protein p.R189H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.2 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
NM_023110 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716304 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_017013221 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
NM_001174063 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_006716303 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38427976C>T c.566G>A p.R189H RefSeq GRCh38/hg38
XM_017013222 chr8:g.38427976C>T c.566G>A p.R189H 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
FGFR1 R189H unknown