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.V713M

c.2137G>A

Surrounding Variants

3 papers

NM_003331.5

p.V713L

c.2137G>T

3 papers

NM_003331.5

p.V713L

c.2137G>C

1 paper

NM_003331.5

p.V714M

c.2140G>A

1 paper

NM_003331.5

p.W710fs

c.2128_2129fs

1 paper

NM_003331.5

p.W710insFs

c.2128dupT

1 paper

NM_003331.5

p.Q716H

c.2148G>T

1 paper

NM_003331.5

p.Q716H

c.2148G>C

1 paper

NM_003331.5

p.L718V

c.2152C>G

1 paper

NM_003331.5

p.A719G

c.2156C>G

1 paper

NM_003331.5

p.V706A

c.2117T>C

1 paper

NM_003331.5

p.S720S

c.2160C>T

1 paper

NM_003331.5

p.L722P

c.2165T>C