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.R398W

c.1192C>T

Surrounding Variants

1 paper

NM_213647.3

p.H399fs

c.1195_1196fs

1 paper

NM_213647.3

p.H399Y

c.1195C>T

2 papers

NM_213647.3

p.H399P

c.1196A>C

1 paper

NM_213647.3

p.H399L

c.1196A>T

1 paper

NM_213647.3

p.H399_R401Fs

c.1196_1202delinsCCCFs

1 paper

NM_213647.3

p.H399Q

c.1197C>A

1 paper

NM_213647.3

p.H399Q

c.1197C>G

1 paper

NM_213647.3

p.P400fs

c.1198_1199fs

1 paper

NM_213647.3

p.H396D

c.1186C>G

1 paper

NM_213647.3

p.P400S

c.1198C>T

1 paper

NM_213647.3

p.P400_R401delFs

c.1199_1202del4

3 papers

NM_213647.3

p.R401C

c.1201C>T