Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.R416*

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.R416*
c.1246C>T
Surrounding Variants
1 paper
NM_213647.3
p.R416Q
c.1247G>A
2 papers
NM_213647.3
p.P413L
c.1238C>T
1 paper
NM_213647.3
p.Q417_F418Splc
c.1251+9C>T
1 paper
NM_213647.3
p.L409V
c.1225C>G
1 paper
NM_213647.3
p.Q407*
c.1219C>T
1 paper
NM_213647.3
p.V406L
c.1216G>C
1 paper
NM_213647.3
p.V406L
c.1216G>T
1 paper
NM_213647.3
p.T405I
c.1214C>T
3 papers
NM_213647.3
p.T405P
c.1213A>C
1 paper
NM_213647.3
p.T405A
c.1213A>G
1 paper
NM_213647.3
p.A404T
c.1210G>A
2 papers
NM_213647.3
p.A404P
c.1210G>C
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