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.G38R

c.112G>C

Surrounding Variants

2 papers

NM_003331.5

p.G38G

c.114C>A

1 paper

NM_003331.5

p.G36G

c.108T>A

2 papers

NM_003331.5

p.G36D

c.107G>A

2 papers

NM_003331.5

p.G40R

c.118G>C

2 papers

NM_003331.5

p.G40R

c.118G>A

1 paper

NM_003331.5

p.G40G

c.120G>A

2 papers

NM_003331.5

p.A35V

c.104C>T

2 papers

NM_003331.5

p.P42T

c.124C>A

1 paper

NM_003331.5

p.P42fs

c.124_125fs

1 paper

NM_003331.5

p.W43S

c.128G>C

1 paper

NM_003331.5

p.A35_V44del10

c.103_131del30

2 papers

NM_003331.5

p.S47N

c.140G>A