Gene Variant Detail

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Gene FGFR1
Variant R78H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R78H lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). R78H has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R78H

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Transcript NM_023110.3
gDNA chr8:g.38429807C>T
cDNA c.233G>A
Protein p.R78H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013224.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716306 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716307 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013223 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013221 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716304 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174065 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013224 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_023110 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_015850 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013222 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174063 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_017013225 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
XM_006716303 chr8:g.38429807C>T c.233G>A p.R78H RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38429807C>T c.233G>A p.R78H 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