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

3 papers

NM_002227.4

p.S397C

c.1190C>G

Surrounding Variants

2 papers

NM_002227.4

p.S397_S398insFs

c.1191_1192insG

1 paper

NM_002227.4

p.S397P

c.1189T>C

1 paper

NM_002227.4

p.S398P

c.1192T>C

1 paper

NM_002227.4

p.L396P

c.1187T>C

3 papers

NM_002227.4

p.S398F

c.1193C>T

1 paper

NM_002227.4

p.H399H

c.1197C>T

2 papers

NM_002227.4

p.E400K

c.1198G>A

1 paper

NM_002227.4

p.L394P

c.1181T>C

1 paper

NM_002227.4

p.E400G

c.1199A>G

1 paper

NM_002227.4

p.E400A

c.1199A>C

1 paper

NM_002227.4

p.L394fs

c.1180_1181fs

1 paper

NM_002227.4

p.E393_L394insFs

c.1179_1180ins7