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

1 paper

NM_003331.5

p.Y962*

c.2886C>G

Surrounding Variants

1 paper

NM_003331.5

p.Y962*

c.2886C>A

2 papers

NM_003331.5

p.C966G

c.2896T>G

1 paper

NM_003331.5

p.E967G

c.2900A>G

5 papers

NM_003331.5

p.E957D

c.2871G>T

5 papers

NM_003331.5

p.E957D

c.2871G>C

1 paper

NM_003331.5

p.Y955H

c.2863T>C

3 papers

NM_003331.5

p.T953M

c.2858C>T

1 paper

NM_003331.5

p.T953S

c.2857A>T

1 paper

NM_003331.5

p.R952H

c.2855G>A

1 paper

NM_003331.5

p.D949N

c.2845G>A

1 paper

NM_003331.5

p.G970Splc

c.2908+31T>C

1 paper

NM_003331.5

p.W944R

c.2830T>C