Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.L4L

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
6 papers
NM_213647.3
p.L4L
c.12G>C
Surrounding Variants
7 papers
NM_213647.3
p.L4L
c.12G>A
1 paper
NM_213647.3
p.R2Q
c.5G>A
5 papers
NM_213647.3
p.R2W
c.4C>T
1 paper
NM_213647.3
p.M1I
c.3G>A
1 paper
NM_213647.3
p.M1_R2insFs
c.3_4insA
2 papers
NM_213647.3
p.M1T
c.2T>C
37 papers
NM_213647.3
p.V10I
c.28G>A
1 paper
NM_213647.3
p.V10L
c.28G>C
1 paper
NM_213647.3
p.V10V
c.30C>G
4 papers
NM_213647.3
p.V14E
c.41T>A
1 paper
NM_213647.3
p.P15L
c.44C>T
1 paper
NM_213647.3
p.G16E
c.47G>A
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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."