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.E864K

c.2590G>A

Surrounding Variants

1 paper

NM_002227.4

p.V865L

c.2593G>T

1 paper

NM_002227.4

p.V865L

c.2593G>C

1 paper

NM_002227.4

p.A862V

c.2585C>T

1 paper

NM_002227.4

p.A862G

c.2585C>G

1 paper

NM_002227.4

p.A862E

c.2585C>A

1 paper

NM_002227.4

p.A862S

c.2584G>T

1 paper

NM_002227.4

p.A862P

c.2584G>C

3 papers

NM_002227.4

p.A862T

c.2584G>A

1 paper

NM_002227.4

p.D866N

c.2596G>A

1 paper

NM_002227.4

p.D866G

c.2597A>G

2 papers

NM_002227.4

p.P861fs

c.2581_2582fs

1 paper

NM_002227.4

p.P861S

c.2581C>T