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

2 papers

NM_003331.5

p.A375P

c.1123G>C

Surrounding Variants

1 paper

NM_003331.5

p.A375V

c.1124C>T

1 paper

NM_003331.5

p.E371K

c.1111G>A

1 paper

NM_003331.5

p.D379E

c.1137C>G

1 paper

NM_003331.5

p.D379E

c.1137C>A

6 papers

NM_003331.5

p.R381W

c.1141C>T

1 paper

NM_003331.5

p.P369T

c.1105C>A

5 papers

NM_003331.5

p.R381Q

c.1142G>A

1 paper

NM_003331.5

p.A366T

c.1096G>A

1 paper

NM_003331.5

p.P365L

c.1094C>T

1 paper

NM_003331.5

p.P365Q

c.1094C>A

1 paper

NM_003331.5

p.H385Y

c.1153C>T

2 papers

NM_003331.5

p.V386M

c.1156G>A