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

1 paper

NM_000215.4

p.H879Y

c.2635C>T

Surrounding Variants

1 paper

NM_000215.4

p.H879D

c.2635C>G

1 paper

NM_000215.4

p.H879N

c.2635C>A

1 paper

NM_000215.4

p.H879R

c.2636A>G

4 papers

NM_000215.4

p.A877V

c.2630C>T

1 paper

NM_000215.4

p.F882L

c.2644T>C

2 papers

NM_000215.4

p.L875L

c.2625C>T

13 papers

NM_000215.4

p.L875H

c.2624T>A

1 paper

NM_000215.4

p.F882L

c.2646C>G

1 paper

NM_000215.4

p.F882L

c.2646C>A

1 paper

NM_000215.4

p.I883L

c.2647A>C

1 paper

NM_000215.4

p.V884V

c.2652C>T

1 paper

NM_000215.4

p.K885E

c.2653A>G