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.D630G

c.1889A>G

Surrounding Variants

2 papers

NM_002227.4

p.R629_I631del0

c.1886_1891del6

1 paper

NM_002227.4

p.R629M

c.1886G>T

1 paper

NM_002227.4

p.R629K

c.1886G>A

1 paper

NM_002227.4

p.R629_S632delins

c.1887_1894delinsTG

1 paper

NM_002227.4

p.S632F

c.1895C>T

1 paper

NM_002227.4

p.H628R

c.1883A>G

1 paper

NM_002227.4

p.H628Y

c.1882C>T

1 paper

NM_002227.4

p.L633Q

c.1898T>A

1 paper

NM_002227.4

p.S627fs

c.1879_1880fs

1 paper

NM_002227.4

p.P626delFs

c.1878delG

1 paper

NM_002227.4

p.P626H

c.1877C>A

1 paper

NM_002227.4

p.P626_S627insGCA

c.1876_1880ins9