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

2 papers

NM_002227.4

p.E668Q

c.2002G>C

Surrounding Variants

2 papers

NM_002227.4

p.E668*

c.2002G>T

2 papers

NM_002227.4

p.E668K

c.2002G>A

1 paper

NM_002227.4

p.E668G

c.2003A>G

1 paper

NM_002227.4

p.E667G

c.2000A>G

1 paper

NM_002227.4

p.F669V

c.2005T>G

1 paper

NM_002227.4

p.E667*

c.1999G>T

1 paper

NM_002227.4

p.E667Q

c.1999G>C

1 paper

NM_002227.4

p.E667K

c.1999G>A

1 paper

NM_002227.4

p.F669fs

c.2005_2006fs

4 papers

NM_002227.4

p.V666G

c.1997T>G

1 paper

NM_002227.4

p.F669F

c.2007T>C

1 paper

NM_002227.4

p.V666M

c.1996G>A