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.E520D

c.1560G>T

Surrounding Variants

1 paper

NM_213647.3

p.E520D

c.1560G>C

1 paper

NM_213647.3

p.E522E

c.1566G>A

1 paper

NM_213647.3

p.V523_M524insG

c.1567_1571ins3

1 paper

NM_213647.3

p.L526ins7

c.1576_1577ins21

2 papers

NM_213647.3

p.A515V

c.1544C>T

2 papers

NM_213647.3

p.A515T

c.1543G>A

2 papers

NM_213647.3

p.G528S

c.1582G>A

3 papers

NM_213647.3

p.G528C

c.1582G>T

1 paper

NM_213647.3

p.G528V

c.1583G>T

1 paper

NM_213647.3

p.R529G

c.1585C>G

1 paper

NM_213647.3

p.R529*

c.1585C>T

2 papers

NM_213647.3

p.R529Q

c.1586G>A