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.L431insFs

c.1291_1292insC

Surrounding Variants

2 papers

NM_002227.4

p.L431M

c.1291T>A

10 papers

NM_002227.4

p.L431fs

c.1291_1292fs

1 paper

NM_002227.4

p.L431S

c.1292T>C

2 papers

NM_002227.4

p.L431*

c.1292T>A

9 papers

NM_002227.4

p.P430insFs

c.1289dupC

1 paper

NM_002227.4

p.P430insFs

c.1288_1289dupCC

27 papers

NM_002227.4

p.P430fs

c.1288_1289fs

17 papers

NM_002227.4

p.P430delFs

c.1289delG

2 papers

NM_002227.4

p.L431F

c.1293G>T

4 papers

NM_002227.4

p.L431fs

c.1291_1292fs

1 paper

NM_002227.4

p.L431F

c.1293G>C

1 paper

NM_002227.4

p.P430L

c.1289C>T