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

12 papers

NM_002227.4

p.S729C

c.2185A>T

Surrounding Variants

1 paper

NM_002227.4

p.S729R

c.2185A>C

1 paper

NM_002227.4

p.S729fs

c.2185_2186fs

1 paper

NM_002227.4

p.S729R

c.2187T>G

1 paper

NM_002227.4

p.S729R

c.2187T>A

2 papers

NM_002227.4

p.E730K

c.2188G>A

2 papers

NM_002227.4

p.I727I

c.2181C>T

1 paper

NM_002227.4

p.I727M

c.2181C>G

1 paper

NM_002227.4

p.I727V

c.2179A>G

1 paper

NM_002227.4

p.G726S

c.2176G>A

1 paper

NM_002227.4

p.E725E

c.2175G>A

1 paper

NM_002227.4

p.E725G

c.2174A>G

1 paper

NM_002227.4

p.E725K

c.2173G>A