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

12 papers

NM_003331.5

p.E1163G

c.3488A>G

Surrounding Variants

1 paper

NM_003331.5

p.E1163K

c.3487G>A

1 paper

NM_003331.5

p.T1161A

c.3481A>G

2 papers

NM_003331.5

p.R1159C

c.3475C>T

1 paper

NM_003331.5

p.T1154I

c.3461C>T

1 paper

NM_003331.5

p.H1173R

c.3518A>G

1 paper

NM_003331.5

p.E1153*

c.3457G>T

1 paper

NM_003331.5

p.V1186G

c.3557T>G

2 papers

NM_003331.5

p.C1187Y

c.3560G>A

1 paper

NM_003331.5

p.D1138E

c.3414C>G

1 paper

NM_003331.5

p.D1138E

c.3414C>A

1 paper

NM_003331.5

p.R1130*

c.3388C>T

1 paper

NM_003331.5

p.M1119V

c.3355A>G