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.D129Y

c.385G>T

Surrounding Variants

1 paper

NM_213647.3

p.D129N

c.385G>A

1 paper

NM_213647.3

p.E128A

c.383A>C

1 paper

NM_213647.3

p.D129D

c.387C>T

1 paper

NM_213647.3

p.P130S

c.388C>T

1 paper

NM_213647.3

p.D127G

c.380A>G

1 paper

NM_213647.3

p.K131*

c.391A>T

8 papers

NM_213647.3

p.D127H

c.379G>C

1 paper

NM_213647.3

p.D127Y

c.379G>T

1 paper

NM_213647.3

p.K131K

c.393G>A

2 papers

NM_213647.3

p.D126N

c.376G>A

1 paper

NM_213647.3

p.S132fs

c.394_395fs

1 paper

NM_213647.3

p.N125I

c.374A>T