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.K357E

c.1069A>G

Surrounding Variants

1 paper

NM_003331.5

p.K355N

c.1065G>T

1 paper

NM_003331.5

p.K355N

c.1065G>C

1 paper

NM_003331.5

p.K355T

c.1064A>C

1 paper

NM_003331.5

p.F352insFs

c.1054dupT

1 paper

NM_003331.5

p.A361T

c.1081G>A

1 paper

NM_003331.5

p.P347_F352delFs

c.1039_1055del17

1 paper

NM_003331.5

p.A361V

c.1082C>T

1 paper

NM_003331.5

p.R345_L351delFs

c.1034_1053del20

46 papers

NM_003331.5

p.V362F

c.1084G>T

1 paper

NM_003331.5

p.V362delins

c.1084_1086delinsTTT

12 papers

NM_003331.5

p.G363S

c.1087G>A

1 paper

NM_003331.5

p.P347_A349delFs

c.1039_1046del8