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.R633H

c.1898G>A

Surrounding Variants

5 papers

NM_003331.5

p.G634E

c.1901G>A

12 papers

NM_003331.5

p.R638*

c.1912C>T

2 papers

NM_003331.5

p.K642E

c.1924A>G

2 papers

NM_003331.5

p.E624K

c.1870G>A

1 paper

NM_003331.5

p.V643insFs

c.1928_1929insA

2 papers

NM_003331.5

p.V643A

c.1928T>C

1 paper

NM_003331.5

p.D645N

c.1933G>A

3 papers

NM_003331.5

p.A652T

c.1954G>A

1 paper

NM_003331.5

p.L653L

c.1957C>T

1 paper

NM_003331.5

p.L653R

c.1958T>G

1 paper

NM_003331.5

p.R609*

c.1825C>T

1 paper

NM_003331.5

p.R607R

c.1821C>T