Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.Q601R

FGFR4

981 papers

RefSeq Summary

The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell pro...

Pfam Domains

I-setaa 153–241UCSCImmunoglobulin I-set domain
Ig_3aa 248–337UCSCImmunoglobulin domain
PK_Tyr_Ser-Thraa 467–743UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 4

HGNC Alias Symbols

JTK2; CD334; TKF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213647.3
p.Q601R
c.1802A>G
Surrounding Variants
1 paper
NM_213647.3
p.Y602N
c.1804T>A
1 paper
NM_213647.3
p.M600K
c.1799T>A
1 paper
NM_213647.3
p.M600L
c.1798A>C
1 paper
NM_213647.3
p.M600L
c.1798A>T
1 paper
NM_213647.3
p.L603V
c.1807C>G
1 paper
NM_213647.3
p.E604K
c.1810G>A
2 papers
NM_213647.3
p.R598Q
c.1793G>A
1 paper
NM_213647.3
p.A597A
c.1791C>T
1 paper
NM_213647.3
p.R606W
c.1816C>T
2 papers
NM_213647.3
p.R606Q
c.1817G>A
1 paper
NM_213647.3
p.K607R
c.1820A>G
1 paper
NM_213647.3
p.K607_C608Splc
c.1821+4C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."