Varaico: Literature-Extracted Genetic Variants

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

4 papers

NM_213647.3

p.R183S

c.547C>A

Surrounding Variants

1 paper

NM_213647.3

p.R183C

c.547C>T

3 papers

NM_213647.3

p.R183H

c.548G>A

1 paper

NM_213647.3

p.W184insFs

c.551dupG

12 papers

NM_213647.3

p.T179A

c.535A>G

2 papers

NM_213647.3

p.D187N

c.559G>A

1 paper

NM_213647.3

p.P178H

c.533C>A

1 paper

NM_213647.3

p.N177D

c.529A>G

3 papers

NM_213647.3

p.A190T

c.568G>A

2 papers

NM_213647.3

p.G176S

c.526G>A

1 paper

NM_213647.3

p.G176C

c.526G>T

1 paper

NM_213647.3

p.A190D

c.569C>A

1 paper

NM_213647.3

p.A190V

c.569C>T