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

33 papers

NM_002227.4

p.L783F

c.2347C>T

Surrounding Variants

1 paper

NM_002227.4

p.L783P

c.2348T>C

1 paper

NM_002227.4

p.T782T

c.2346G>A

13 papers

NM_002227.4

p.T782M

c.2345C>T

1 paper

NM_002227.4

p.W784R

c.2350T>C

1 paper

NM_002227.4

p.W784R

c.2350T>A

1 paper

NM_002227.4

p.W784L

c.2351G>T

1 paper

NM_002227.4

p.T781I

c.2342C>T

2 papers

NM_002227.4

p.T781N

c.2342C>A

2 papers

NM_002227.4

p.E785K

c.2353G>A

1 paper

NM_002227.4

p.E785G

c.2354A>G

2 papers

NM_002227.4

p.G780R

c.2338G>C

2 papers

NM_002227.4

p.G780R

c.2338G>A