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.A934E

c.2801C>A

Surrounding Variants

2 papers

NM_003331.5

p.G937A

c.2810G>C

2 papers

NM_003331.5

p.A931D

c.2792C>A

2 papers

NM_003331.5

p.K930I

c.2789A>T

8 papers

NM_003331.5

p.K930R

c.2789A>G

1 paper

NM_003331.5

p.Q939*

c.2815C>T

1 paper

NM_003331.5

p.Q939K

c.2815C>A

26 papers

NM_003331.5

p.A928V

c.2783C>T

1 paper

NM_003331.5

p.A928T

c.2782G>A

2 papers

NM_003331.5

p.R941H

c.2822G>A

2 papers

NM_003331.5

p.S942L

c.2825C>T

1 paper

NM_003331.5

p.M926V

c.2776A>G

2 papers

NM_003331.5

p.G943C

c.2827G>T