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.R681W

c.2041C>T

Surrounding Variants

1 paper

NM_002227.4

p.R681Q

c.2042G>A

1 paper

NM_002227.4

p.H680H

c.2040C>T

1 paper

NM_002227.4

p.K682*

c.2044A>T

2 papers

NM_002227.4

p.K682R

c.2045A>G

2 papers

NM_002227.4

p.M679L

c.2035A>T

2 papers

NM_002227.4

p.M679L

c.2035A>C

1 paper

NM_002227.4

p.S683N

c.2048G>A

8 papers

NM_002227.4

p.S683S

c.2049C>T

1 paper

NM_002227.4

p.D684V

c.2051A>T

2 papers

NM_002227.4

p.V685F

c.2053G>T

1 paper

NM_002227.4

p.L677I

c.2029C>A

1 paper

NM_002227.4

p.V685A

c.2054T>C