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.R149S

c.445C>A

Surrounding Variants

2 papers

NM_000215.4

p.R149H

c.446G>A

1 paper

NM_000215.4

p.G148W

c.442G>T

1 paper

NM_000215.4

p.G148R

c.442G>C

1 paper

NM_000215.4

p.G148R

c.442G>A

1 paper

NM_000215.4

p.R149delFs

c.445_446delCG

1 paper

NM_000215.4

p.S147T

c.440G>C

1 paper

NM_000215.4

p.P151A

c.451C>G

1 paper

NM_000215.4

p.P151L

c.452C>T

23 papers

NM_000215.4

p.P151R

c.452C>G

1 paper

NM_000215.4

p.P151P

c.453C>G

1 paper

NM_000215.4

p.P151_V152insFs

c.453_454insA

1 paper

NM_000215.4

p.L145R

c.434T>G