Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.L584F

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
2 papers
NM_213647.3
p.L584F
c.1750C>T
Surrounding Variants
1 paper
NM_213647.3
p.L584V
c.1750C>G
2 papers
NM_213647.3
p.L584P
c.1751T>C
2 papers
NM_213647.3
p.P583Q
c.1748C>A
3 papers
NM_213647.3
p.P583L
c.1748C>T
1 paper
NM_213647.3
p.F586L
c.1756T>C
1 paper
NM_213647.3
p.F586L
c.1758C>A
1 paper
NM_213647.3
p.F586L
c.1758C>G
1 paper
NM_213647.3
p.V588I
c.1762G>A
1 paper
NM_213647.3
p.R578Q
c.1733G>A
4 papers
NM_213647.3
p.S591F
c.1772C>T
7 papers
NM_213647.3
p.G576D
c.1727G>A
1 paper
NM_213647.3
p.C592F
c.1775G>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."