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

4 papers

NM_003331.5

p.R221W

c.661C>T

Surrounding Variants

1 paper

NM_003331.5

p.R221Q

c.662G>A

1 paper

NM_003331.5

p.R220H

c.659G>A

1 paper

NM_003331.5

p.R220C

c.658C>T

1 paper

NM_003331.5

p.R224W

c.670C>T

1 paper

NM_003331.5

p.R217H

c.650G>A

3 papers

NM_003331.5

p.R217C

c.649C>T

2 papers

NM_003331.5

p.P216fs

c.646_647fs

8 papers

NM_003331.5

p.P216delFs

c.647delG

7 papers

NM_003331.5

p.P216fs

c.646_647fs

1 paper

NM_003331.5

p.I215M

c.645C>G

1 paper

NM_003331.5

p.C214Y

c.641G>A

1 paper

NM_003331.5

p.T230A

c.688A>G