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.E706A

c.2117A>C

Surrounding Variants

1 paper

NM_002227.4

p.E706D

c.2118G>T

1 paper

NM_002227.4

p.E706*

c.2116G>T

1 paper

NM_002227.4

p.E706D

c.2118G>C

1 paper

NM_002227.4

p.E706K

c.2116G>A

1 paper

NM_002227.4

p.D707N

c.2119G>A

1 paper

NM_002227.4

p.L705_E706Splc

c.2116-2A>G

1 paper

NM_002227.4

p.E706del1

c.2116_2117delCTC

1 paper

NM_002227.4

p.D709N

c.2125G>A

1 paper

NM_002227.4

p.K708delFs

c.2124delT

4 papers

NM_002227.4

p.L710V

c.2128C>G

1 paper

NM_002227.4

p.L710P

c.2129T>C

1 paper

NM_002227.4

p.G713R

c.2137G>C