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

141 papers

NM_003331.5

p.P1104A

c.3310C>G

Surrounding Variants

1 paper

NM_003331.5

p.S1103T

c.3308G>C

1 paper

NM_003331.5

p.P1105S

c.3313C>T

1 paper

NM_003331.5

p.S1103G

c.3307A>G

1 paper

NM_003331.5

p.P1105L

c.3314C>T

1 paper

NM_003331.5

p.P1105R

c.3314C>G

5 papers

NM_003331.5

p.T1106fs

c.3316_3317fs

3 papers

NM_003331.5

p.P1105_T1106insFs

c.3315_3316insC

5 papers

NM_003331.5

p.T1106_K1107insFs

c.3318_3319insC

1 paper

NM_003331.5

p.T1106fs

c.3316_3317fs

1 paper

NM_003331.5

p.H1097D

c.3289C>G

1 paper

NM_003331.5

p.T1096M

c.3287C>T

1 paper

NM_003331.5

p.E1093*

c.3277G>T