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.H596Q

c.1788C>A

Surrounding Variants

1 paper

NM_002227.4

p.H596Q

c.1788C>G

4 papers

NM_002227.4

p.I597F

c.1789A>T

7 papers

NM_002227.4

p.H596D

c.1786C>G

2 papers

NM_002227.4

p.I597M

c.1791C>G

1 paper

NM_002227.4

p.Y598H

c.1792T>C

4 papers

NM_002227.4

p.Y598C

c.1793A>G

1 paper

NM_002227.4

p.T595A

c.1783A>G

1 paper

NM_002227.4

p.Y598insFs

c.1792_1793insT

1 paper

NM_002227.4

p.S599P

c.1795T>C

1 paper

NM_002227.4

p.S599F

c.1796C>T

1 paper

NM_002227.4

p.S599delFs

c.1795delA

5 papers

NM_002227.4

p.G600W

c.1798G>T