Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.R134K

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.R134K
c.401G>A
Surrounding Variants
3 papers
NM_213647.3
p.R134G
c.400A>G
3 papers
NM_213647.3
p.D135N
c.403G>A
1 paper
NM_213647.3
p.D135V
c.404A>T
1 paper
NM_213647.3
p.P136S
c.406C>T
24 papers
NM_213647.3
p.P136L
c.407C>T
1 paper
NM_213647.3
p.S132fs
c.394_395fs
1 paper
NM_213647.3
p.K131K
c.393G>A
1 paper
NM_213647.3
p.S137*
c.410C>A
1 paper
NM_213647.3
p.K131*
c.391A>T
1 paper
NM_213647.3
p.S137S
c.411G>A
1 paper
NM_213647.3
p.P130S
c.388C>T
1 paper
NM_213647.3
p.D129D
c.387C>T
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