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

7 papers

NM_213647.3

p.G576D

c.1727G>A

Surrounding Variants

1 paper

NM_213647.3

p.R578Q

c.1733G>A

1 paper

NM_213647.3

p.S573I

c.1718G>T

1 paper

NM_213647.3

p.L572V

c.1714C>G

1 paper

NM_213647.3

p.D571G

c.1712A>G

2 papers

NM_213647.3

p.P583Q

c.1748C>A

3 papers

NM_213647.3

p.P583L

c.1748C>T

1 paper

NM_213647.3

p.L584V

c.1750C>G

2 papers

NM_213647.3

p.L584F

c.1750C>T

1 paper

NM_213647.3

p.P568Q

c.1703C>A

2 papers

NM_213647.3

p.L584P

c.1751T>C

2 papers

NM_213647.3

p.P568fs

c.1702_1703fs

1 paper

NM_213647.3

p.P568S

c.1702C>T