Varaico: Literature-Extracted Genetic Variants

JAK1

1,174 papers

RefSeq Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to...

Pfam Domains

FERM_F1aa 36–129UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 147–277UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 284–421UCSCJak1 pleckstrin homology-like domain

SH2_1aa 438–546UCSCSH2 domain

PK_Tyr_Ser-Thraa 583–845UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 875–1149UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 1

HGNC Previous Symbol

JAK1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002227.4

p.E609K

c.1825G>A

Surrounding Variants

1 paper

NM_002227.4

p.D608D

c.1824C>T

1 paper

NM_002227.4

p.G610*

c.1828G>T

1 paper

NM_002227.4

p.D607D

c.1821T>C

1 paper

NM_002227.4

p.Y605Y

c.1815C>T

2 papers

NM_002227.4

p.D604Y

c.1810G>T

1 paper

NM_002227.4

p.M603I

c.1809G>T

1 paper

NM_002227.4

p.M603I

c.1809G>C

1 paper

NM_002227.4

p.M603I

c.1809G>A

1 paper

NM_002227.4

p.M603T

c.1808T>C

1 paper

NM_002227.4

p.E614D

c.1842G>T

1 paper

NM_002227.4

p.E614D

c.1842G>C

1 paper

NM_002227.4

p.L602P

c.1805T>C