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

4 papers

NM_000215.4

p.S493C

c.1477A>T

Surrounding Variants

1 paper

NM_000215.4

p.S493G

c.1477A>G

1 paper

NM_000215.4

p.P494S

c.1480C>T

1 paper

NM_000215.4

p.G491V

c.1472G>T

1 paper

NM_000215.4

p.G491S

c.1471G>A

1 paper

NM_000215.4

p.Q489H

c.1467G>T

1 paper

NM_000215.4

p.Q489H

c.1467G>C

1 paper

NM_000215.4

p.T496I

c.1487C>T

2 papers

NM_000215.4

p.Q489*

c.1465C>T

1 paper

NM_000215.4

p.S498Y

c.1493C>A

1 paper

NM_000215.4

p.V487M

c.1459G>A

2 papers

NM_000215.4

p.V500F

c.1498G>T

2 papers

NM_000215.4

p.V500I

c.1498G>A