Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.V550L

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
70 papers
NM_213647.3
p.V550L
c.1648G>C
Surrounding Variants
32 papers
NM_213647.3
p.V550M
c.1648G>A
NM_022963.3
p.V510M
c.1528G>A
71 papers
NM_213647.3
p.V550L
c.1648G>T
34 papers
NM_213647.3
p.V550E
c.1649T>A
1 paper
NM_213647.3
p.V550G
c.1649T>G
1 paper
NM_213647.3
p.E551V
c.1652A>T
7 papers
NM_213647.3
p.V548M
c.1642G>A
2 papers
NM_213647.3
p.V548L
c.1642G>C
2 papers
NM_213647.3
p.V548L
c.1642G>T
1 paper
NM_213647.3
p.C552S
c.1654T>A
3 papers
NM_213647.3
p.C552R
c.1654T>C
1 paper
NM_213647.3
p.C552Y
c.1655G>A
1 paper
NM_213647.3
p.C552S
c.1655G>C
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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."