Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.F462L

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.F462L
c.1386C>A
Surrounding Variants
1 paper
NM_213647.3
p.P463S
c.1387C>T
2 papers
NM_213647.3
p.R464W
c.1390C>T
1 paper
NM_213647.3
p.R464fs
c.1390_1391fs
1 paper
NM_213647.3
p.E461K
c.1381G>A
1 paper
NM_213647.3
p.D465N
c.1393G>A
1 paper
NM_213647.3
p.D465Y
c.1393G>T
1 paper
NM_213647.3
p.W460fs
c.1378_1379fs
1 paper
NM_213647.3
p.W460_R466delFs
c.1378_1397del20
2 papers
NM_213647.3
p.R466M
c.1397G>T
1 paper
NM_213647.3
p.L456L
c.1368C>T
1 paper
NM_213647.3
p.L456V
c.1366C>G
2 papers
NM_213647.3
p.V450M
c.1348G>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."