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

45 papers

NM_213647.3

p.N535K

c.1605C>G

Surrounding Variants

45 papers

NM_213647.3

p.N535K

c.1605C>A

11 papers

NM_213647.3

p.N535D

c.1603A>G

1 paper

NM_022963.3

p.L497fs

c.1489_1490fs

1 paper

NM_213647.3

p.I534N

c.1601T>A

1 paper

NM_213647.3

p.I534S

c.1601T>G

1 paper

NM_213647.3

p.C540*

c.1620C>A

1 paper

NM_213647.3

p.C540W

c.1620C>G

1 paper

NM_213647.3

p.H530Y

c.1588C>T

1 paper

NM_213647.3

p.T541I

c.1622C>T

2 papers

NM_213647.3

p.R529Q

c.1586G>A

1 paper

NM_213647.3

p.R529G

c.1585C>G

1 paper

NM_213647.3

p.R529*

c.1585C>T