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

2 papers

NM_000215.4

p.Y105F

c.314A>T

Surrounding Variants

1 paper

NM_000215.4

p.Y105H

c.313T>C

1 paper

NM_000215.4

p.Y105Y

c.315C>T

1 paper

NM_000215.4

p.Y105*

c.315C>A

1 paper

NM_000215.4

p.F106insFs

c.316dupT

1 paper

NM_000215.4

p.Y105_F106delFs

c.313_317del5

8 papers

NM_000215.4

p.R103H

c.308G>A

12 papers

NM_000215.4

p.R103C

c.307C>T

1 paper

NM_000215.4

p.R103G

c.307C>G

1 paper

NM_000215.4

p.N108del1

c.322_324delATT

1 paper

NM_000215.4

p.F110_G111ins8

c.328_332ins24

1 paper

NM_000215.4

p.F110V

c.328T>G

2 papers

NM_000215.4

p.F110fs

c.328_329fs