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.Q503*

c.1507C>T

Surrounding Variants

1 paper

NM_000215.4

p.L499_P502del4

c.1495_1505del12

2 papers

NM_000215.4

p.P502L

c.1505C>T

1 paper

NM_000215.4

p.Q503H

c.1509A>T

1 paper

NM_000215.4

p.Q503H

c.1509A>C

18 papers

NM_000215.4

p.Q501H

c.1503G>T

16 papers

NM_000215.4

p.Q501H

c.1503G>C

1 paper

NM_000215.4

p.S504F

c.1511C>T

1 paper

NM_000215.4

p.S504Y

c.1511C>A

1 paper

NM_000215.4

p.Q501*

c.1501C>T

2 papers

NM_000215.4

p.V500F

c.1498G>T

2 papers

NM_000215.4

p.V500I

c.1498G>A

1 paper

NM_000215.4

p.Q507L

c.1520A>T