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.Q20P

c.59A>C

Surrounding Variants

1 paper

NM_003331.5

p.P21T

c.61C>A

1 paper

NM_003331.5

p.A19V

c.56C>T

1 paper

NM_003331.5

p.S12_V15delFs

c.35_44del10

4 papers

NM_003331.5

p.V15A

c.44T>C

1 paper

NM_003331.5

p.V15I

c.43G>A

1 paper

NM_003331.5

p.S12R

c.36T>G

1 paper

NM_003331.5

p.S12R

c.36T>A

1 paper

NM_003331.5

p.L28Q

c.83T>A

1 paper

NM_003331.5

p.S12R

c.34A>C

1 paper

NM_003331.5

p.G11G

c.33C>T

1 paper

NM_003331.5

p.G11A

c.32G>C

1 paper

NM_003331.5

p.G11C

c.31G>T