Varaico: Literature-Extracted Genetic Variants

JAK3

1,411 papers

RefSeq Summary

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expresse...

Pfam Domains

FERM_F1aa 26–121UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 126–245UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 273–357UCSCJak1 pleckstrin homology-like domain

SH2_1aa 374–477UCSCSH2 domain

PK_Tyr_Ser-Thraa 521–777UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 822–1095UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 3

HGNC Alias Symbols

L-JAK; JAKL; LJAK; JAK3_HUMAN; JAK-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000215.4

p.C591Y

c.1772G>A

Surrounding Variants

1 paper

NM_000215.4

p.M592V

c.1774A>G

1 paper

NM_000215.4

p.V590A

c.1769T>C

3 papers

NM_000215.4

p.V590M

c.1768G>A

4 papers

NM_000215.4

p.A593T

c.1777G>A

8 papers

NM_000215.4

p.G589G

c.1767C>T

3 papers

NM_000215.4

p.G589D

c.1766G>A

1 paper

NM_000215.4

p.A593V

c.1778C>T

1 paper

NM_000215.4

p.G589C

c.1765G>T

14 papers

NM_000215.4

p.G589S

c.1765G>A

1 paper

NM_000215.4

p.H588Q

c.1764C>G

1 paper

NM_000215.4

p.H588Q

c.1764C>A

3 papers

NM_000215.4

p.H588P

c.1763A>C