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.R121C

c.361C>T

Surrounding Variants

2 papers

NM_000215.4

p.L120delFs

c.359_360delTA

1 paper

NM_000215.4

p.R121L

c.362G>T

2 papers

NM_000215.4

p.R121H

c.362G>A

1 paper

NM_000215.4

p.L120L

c.360A>T

1 paper

NM_000215.4

p.L120L

c.360A>G

1 paper

NM_000215.4

p.L120P

c.359T>C

1 paper

NM_000215.4

p.L120L

c.358C>T

1 paper

NM_000215.4

p.K122E

c.364A>G

1 paper

NM_000215.4

p.G119G

c.357G>A

2 papers

NM_000215.4

p.G119R

c.355G>C

2 papers

NM_000215.4

p.G119R

c.355G>A

1 paper

NM_000215.4

p.D123N

c.367G>A