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.A428V

c.1283C>T

Surrounding Variants

1 paper

NM_002227.4

p.A428G

c.1283C>G

1 paper

NM_002227.4

p.A428D

c.1283C>A

1 paper

NM_002227.4

p.A428S

c.1282G>T

3 papers

NM_002227.4

p.A428P

c.1282G>C

1 paper

NM_002227.4

p.A428T

c.1282G>A

1 paper

NM_002227.4

p.C424_V427del4

c.1270_1280del12

1 paper

NM_002227.4

p.A428fs

c.1282_1283fs

1 paper

NM_002227.4

p.P429S

c.1285C>T

1 paper

NM_002227.4

p.P429R

c.1286C>G

4 papers

NM_002227.4

p.V427M

c.1279G>A

12 papers

NM_002227.4

p.P430fs

c.1288_1289fs

2 papers

NM_002227.4

p.D426D

c.1278C>T