Varaico: Literature-Extracted Genetic Variants

TYK2

765 papers

RefSeq Summary

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine ...

Pfam Domains

FERM_F1aa 28–125UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 141–266UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 285–432UCSCJak1 pleckstrin homology-like domain

SH2_1aa 449–553UCSCSH2 domain

PK_Tyr_Ser-Thraa 589–866UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 897–1169UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

tyrosine kinase 2

HGNC Alias Symbol

JTK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003331.5

p.R4H

c.11G>A

Surrounding Variants

3 papers

NM_003331.5

p.R4C

c.10C>T

1 paper

NM_003331.5

p.P2S

c.4C>T

1 paper

NM_003331.5

p.M1Fs

c.2delinsTGFs

1 paper

NM_003331.5

p.M1insFs

c.1_2dupAT

1 paper

NM_003331.5

p.M1_P2insFs

c.3_4insA

2 papers

NM_003331.5

p.M1T

c.2T>C

2 papers

NM_003331.5

p.M1K

c.2T>A

4 papers

NM_003331.5

p.M1V

c.1A>G

1 paper

NM_003331.5

p.M8L

c.22A>T

1 paper

NM_003331.5

p.M8V

c.22A>G

1 paper

NM_003331.5

p.M8L

c.22A>C

1 paper

NM_003331.5

p.G11C

c.31G>T