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.A417E

c.1250C>A

Surrounding Variants

1 paper

NM_002227.4

p.A417V

c.1250C>T

2 papers

NM_002227.4

p.A417G

c.1250C>G

1 paper

NM_002227.4

p.A417S

c.1249G>T

1 paper

NM_002227.4

p.A417P

c.1249G>C

1 paper

NM_002227.4

p.A417T

c.1249G>A

1 paper

NM_002227.4

p.T416fs

c.1246_1247fs

1 paper

NM_002227.4

p.A419S

c.1255G>T

1 paper

NM_002227.4

p.A419P

c.1255G>C

2 papers

NM_002227.4

p.A419T

c.1255G>A

2 papers

NM_002227.4

p.A419V

c.1256C>T

1 paper

NM_002227.4

p.A419G

c.1256C>G

1 paper

NM_002227.4

p.A419D

c.1256C>A