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.R607C

c.1819C>T

Surrounding Variants

1 paper

NM_003331.5

p.R607H

c.1820G>A

1 paper

NM_003331.5

p.R607R

c.1821C>T

1 paper

NM_003331.5

p.R609*

c.1825C>T

13 papers

NM_003331.5

p.V603M

c.1807G>A

1 paper

NM_003331.5

p.N602S

c.1805A>G

1 paper

NM_003331.5

p.R600S

c.1800G>T

1 paper

NM_003331.5

p.R600S

c.1800G>C

2 papers

NM_003331.5

p.G596V

c.1787G>T

1 paper

NM_003331.5

p.S593S

c.1779C>T

1 paper

NM_003331.5

p.Q591_L592Splc

c.1774-1G>A

2 papers

NM_003331.5

p.E624K

c.1870G>A

1 paper

NM_003331.5

p.R633H

c.1898G>A