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.G442D

c.1325G>A

Surrounding Variants

1 paper

NM_002227.4

p.G442V

c.1325G>T

1 paper

NM_002227.4

p.G442R

c.1324G>C

1 paper

NM_002227.4

p.G442S

c.1324G>A

1 paper

NM_002227.4

p.P443S

c.1327C>T

1 paper

NM_002227.4

p.P443A

c.1327C>G

1 paper

NM_002227.4

p.H441L

c.1322A>T

1 paper

NM_002227.4

p.H441R

c.1322A>G

4 papers

NM_002227.4

p.H441Y

c.1321C>T

1 paper

NM_002227.4

p.H441N

c.1321C>A

1 paper

NM_002227.4

p.I444S

c.1331T>G

1 paper

NM_002227.4

p.C440Y

c.1319G>A

1 paper

NM_002227.4

p.C440R

c.1318T>C