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

1–12 of 2163 variants

86 papers

NM_002227.4

p.V658F

c.1972G>T

54 papers

NM_002227.4

p.A634D

c.1901C>A

53 papers

NM_002227.4

p.S703I

c.2108G>T

49 papers

NM_002227.4

p.R724H

c.2171G>A

35 papers

NM_002227.4

p.K860fs

c.2578_2579fs

33 papers

NM_002227.4

p.L783F

c.2347C>T

28 papers

NM_002227.4

p.Y652H

c.1954T>C

27 papers

NM_002227.4

p.P430fs

c.1288_1289fs

21 papers

NM_002227.4

p.K860fs

c.2578_2579fs

20 papers

NM_002227.4

p.T478S

c.1432A>T

20 papers

NM_002227.4

p.T478S

c.1433C>G

20 papers

NM_002227.4

p.V623A

c.1868T>C