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

3 papers

NM_000215.4

p.L586Q

c.1757T>A

Surrounding Variants

1 paper

NM_000215.4

p.H583_L586del0

c.1748_1756del9

2 papers

NM_000215.4

p.L586V

c.1756C>G

2 papers

NM_000215.4

p.V585L

c.1753G>T

2 papers

NM_000215.4

p.V585L

c.1753G>C

1 paper

NM_000215.4

p.L584L

c.1752C>T

1 paper

NM_000215.4

p.L584L

c.1752C>G

3 papers

NM_000215.4

p.H588P

c.1763A>C

1 paper

NM_000215.4

p.H588Q

c.1764C>G

1 paper

NM_000215.4

p.H588Q

c.1764C>A

1 paper

NM_000215.4

p.G589C

c.1765G>T

14 papers

NM_000215.4

p.G589S

c.1765G>A

3 papers

NM_000215.4

p.G589D

c.1766G>A