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

8 papers

NM_002227.4

p.F734L

c.2202C>A

Surrounding Variants

8 papers

NM_002227.4

p.F734L

c.2202C>G

1 paper

NM_002227.4

p.I735V

c.2203A>G

8 papers

NM_002227.4

p.F734L

c.2200T>C

14 papers

NM_002227.4

p.P733P

c.2199A>G

1 paper

NM_002227.4

p.P733delins

c.2198_2199delinsAG

11 papers

NM_002227.4

p.P733L

c.2198C>T

1 paper

NM_002227.4

p.P733Q

c.2198C>A

1 paper

NM_002227.4

p.K736E

c.2206A>G

1 paper

NM_002227.4

p.S738R

c.2212A>C

1 paper

NM_002227.4

p.S738R

c.2214T>G

1 paper

NM_002227.4

p.S738R

c.2214T>A

2 papers

NM_002227.4

p.D739N

c.2215G>A