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.C481S

c.1441T>A

Surrounding Variants

1 paper

NM_002227.4

p.C481R

c.1441T>C

1 paper

NM_002227.4

p.C481S

c.1442G>C

1 paper

NM_002227.4

p.C481*

c.1443C>A

2 papers

NM_002227.4

p.F482Y

c.1445T>A

1 paper

NM_002227.4

p.V479A

c.1436T>C

1 paper

NM_002227.4

p.E483Q

c.1447G>C

3 papers

NM_002227.4

p.V479I

c.1435G>A

1 paper

NM_002227.4

p.E483K

c.1447G>A

1 paper

NM_002227.4

p.E483G

c.1448A>G

1 paper

NM_002227.4

p.E483D

c.1449G>T

1 paper

NM_002227.4

p.E483D

c.1449G>C

20 papers

NM_002227.4

p.T478S

c.1433C>G