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.G710D

c.2129G>A

Surrounding Variants

1 paper

NM_000215.4

p.W709C

c.2127G>T

1 paper

NM_000215.4

p.W709C

c.2127G>C

1 paper

NM_000215.4

p.W709L

c.2126G>T

1 paper

NM_000215.4

p.W709G

c.2125T>G

7 papers

NM_000215.4

p.W709R

c.2125T>C

7 papers

NM_000215.4

p.W709R

c.2125T>A

2 papers

NM_000215.4

p.G712S

c.2134G>A

1 paper

NM_000215.4

p.G712D

c.2135G>A

3 papers

NM_000215.4

p.D707A

c.2120A>C

1 paper

NM_000215.4

p.D707H

c.2119G>C

2 papers

NM_000215.4

p.D707N

c.2119G>A

1 paper

NM_000215.4

p.Q700_A713delFs

c.2099_2138del40