Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.S419C

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.S419C
c.1256C>G
Surrounding Variants
1 paper
NM_213647.3
p.S419F
c.1256C>T
1 paper
NM_213647.3
p.L420M
c.1258C>A
2 papers
NM_022963.3
p.E381K
c.1141G>A
NM_213647.3
p.E421K
c.1261G>A
1 paper
NM_213647.3
p.E421*
c.1261G>T
1 paper
NM_022963.3
p.S382L
c.1145C>T
1 paper
NM_213647.3
p.G423G
c.1269C>T
1 paper
NM_213647.3
p.S425T
c.1273T>A
1 paper
NM_213647.3
p.S425S
c.1275C>T
2 papers
NM_213647.3
p.G426S
c.1276G>A
1 paper
NM_213647.3
p.G426D
c.1277G>A
2 papers
NM_213647.3
p.G426V
c.1277G>T
1 paper
NM_213647.3
p.S428A
c.1282T>G
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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."