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.G592S

c.1774G>A

Surrounding Variants

1 paper

NM_002227.4

p.G592V

c.1775G>T

5 papers

NM_002227.4

p.T593M

c.1778C>T

1 paper

NM_002227.4

p.G590E

c.1769G>A

2 papers

NM_002227.4

p.G590R

c.1768G>C

2 papers

NM_002227.4

p.G590R

c.1768G>A

1 paper

NM_002227.4

p.L589P

c.1766T>C

1 paper

NM_002227.4

p.L589F

c.1765C>T

1 paper

NM_002227.4

p.L589I

c.1765C>A

1 paper

NM_002227.4

p.T595A

c.1783A>G

1 paper

NM_002227.4

p.H588R

c.1763A>G

7 papers

NM_002227.4

p.H596D

c.1786C>G

1 paper

NM_002227.4

p.E587D

c.1761G>T