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

1 paper

NM_213647.3

p.A190D

c.569C>A

Surrounding Variants

1 paper

NM_213647.3

p.A190V

c.569C>T

3 papers

NM_213647.3

p.A190T

c.568G>A

2 papers

NM_213647.3

p.H192fs

c.574_575fs

1 paper

NM_213647.3

p.H192Y

c.574C>T

2 papers

NM_213647.3

p.D187N

c.559G>A

1 paper

NM_213647.3

p.E194K

c.580G>A

1 paper

NM_213647.3

p.E194E

c.582G>A

1 paper

NM_213647.3

p.R196C

c.586C>T

1 paper

NM_213647.3

p.R196H

c.587G>A

1 paper

NM_213647.3

p.R196P

c.587G>C

1 paper

NM_213647.3

p.R196L

c.587G>T

1 paper

NM_213647.3

p.W184insFs

c.551dupG