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

12 papers

NM_000215.4

p.Q507P

c.1520A>C

Surrounding Variants

1 paper

NM_000215.4

p.Q507L

c.1520A>T

1 paper

NM_000215.4

p.Q507R

c.1520A>G

1 paper

NM_000215.4

p.S509R

c.1525A>C

1 paper

NM_000215.4

p.S509R

c.1527T>G

1 paper

NM_000215.4

p.S509R

c.1527T>A

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.Q510R

c.1529A>G

1 paper

NM_000215.4

p.Q503H

c.1509A>T

1 paper

NM_000215.4

p.Q503H

c.1509A>C

12 papers

NM_000215.4

p.M511T

c.1532T>C

125 papers

NM_000215.4

p.M511I

c.1533G>T