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

3 papers

NM_000215.4

p.T848A

c.2542A>G

Surrounding Variants

1 paper

NM_000215.4

p.T848I

c.2543C>T

2 papers

NM_000215.4

p.D846N

c.2536G>A

1 paper

NM_000215.4

p.A850V

c.2549C>T

1 paper

NM_000215.4

p.P843Q

c.2528C>A

1 paper

NM_000215.4

p.A853S

c.2557G>T

1 paper

NM_000215.4

p.A853A

c.2559C>T

1 paper

NM_000215.4

p.D842V

c.2525A>T

1 paper

NM_000215.4

p.D842Y

c.2524G>T

2 papers

NM_000215.4

p.V854M

c.2560G>A

1 paper

NM_000215.4

p.Y841F

c.2522A>T

1 paper

NM_000215.4

p.R840H

c.2519G>A

18 papers

NM_000215.4

p.R840C

c.2518C>T