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.Y412H

c.1234T>C

Surrounding Variants

1 paper

NM_002227.4

p.G411V

c.1232G>T

1 paper

NM_002227.4

p.Y412*

c.1236C>G

1 paper

NM_002227.4

p.Y412*

c.1236C>A

1 paper

NM_002227.4

p.F413V

c.1237T>G

2 papers

NM_002227.4

p.F413L

c.1237T>C

1 paper

NM_002227.4

p.G411S

c.1231G>A

1 paper

NM_002227.4

p.F413S

c.1238T>C

2 papers

NM_002227.4

p.F413L

c.1239C>G

2 papers

NM_002227.4

p.F413L

c.1239C>A

2 papers

NM_002227.4

p.D410N

c.1228G>A

2 papers

NM_002227.4

p.R414W

c.1240C>T

1 paper

NM_002227.4

p.R414Q

c.1241G>A