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.S1086F

c.3257C>T

Surrounding Variants

1 paper

NM_003331.5

p.G1088E

c.3263G>A

1 paper

NM_003331.5

p.D1083G

c.3248A>G

1 paper

NM_003331.5

p.T1090I

c.3269C>T

1 paper

NM_003331.5

p.A1081V

c.3242C>T

1 paper

NM_003331.5

p.L1091fs

c.3271_3272fs

5 papers

NM_003331.5

p.Y1080C

c.3239A>G

1 paper

NM_003331.5

p.E1093*

c.3277G>T

1 paper

NM_003331.5

p.E1093K

c.3277G>A

1 paper

NM_003331.5

p.K1077T

c.3230A>C

1 paper

NM_003331.5

p.K1077*

c.3229A>T

1 paper

NM_003331.5

p.T1096M

c.3287C>T

1 paper

NM_003331.5

p.H1097D

c.3289C>G