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.S768_E770del0

c.2302_2310del9

Surrounding Variants

4 papers

NM_003331.5

p.S768_E771del0

c.2303_2311del9

1 paper

NM_003331.5

p.E771Splc

c.2311+5G>C

1 paper

NM_003331.5

p.E771Splc

c.2311+11G>C

1 paper

NM_003331.5

p.L767I

c.2299C>A

1 paper

NM_003331.5

p.A766T

c.2296G>A

1 paper

NM_003331.5

p.V762G

c.2285T>G

1 paper

NM_003331.5

p.V762A

c.2285T>C

14 papers

NM_003331.5

p.G761V

c.2282G>T

1 paper

NM_003331.5

p.G761S

c.2281G>A

8 papers

NM_003331.5

p.P760L

c.2279C>T

1 paper

NM_003331.5

p.L757V

c.2269C>G

1 paper

NM_003331.5

p.P753L

c.2258C>T