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.F238L

c.714C>A

Surrounding Variants

1 paper

NM_003331.5

p.F238L

c.714C>G

1 paper

NM_003331.5

p.F238S

c.713T>C

1 paper

NM_003331.5

p.F238L

c.712T>C

1 paper

NM_003331.5

p.R239R

c.717C>G

1 paper

NM_003331.5

p.R240W

c.718A>T

1 paper

NM_003331.5

p.V237I

c.709G>A

1 paper

NM_003331.5

p.F241F

c.723C>T

1 paper

NM_003331.5

p.R235Q

c.704G>A

3 papers

NM_003331.5

p.R235W

c.703C>T

3 papers

NM_003331.5

p.R243W

c.727C>T

1 paper

NM_003331.5

p.L234ins7

c.700_701ins21

1 paper

NM_003331.5

p.L232M

c.694C>A