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.H141insFs

c.422_423ins4

Surrounding Variants

2 papers

NM_000215.4

p.R142C

c.424C>T

3 papers

NM_000215.4

p.R142H

c.425G>A

1 paper

NM_000215.4

p.H141fs

c.421_422fs

1 paper

NM_000215.4

p.S143C

c.427A>T

1 paper

NM_000215.4

p.S143I

c.428G>T

1 paper

NM_000215.4

p.R142_S143delFs

c.424_427del4

1 paper

NM_000215.4

p.Q140_H141Splc

c.421-6C>T

1 paper

NM_000215.4

p.D144V

c.431A>T

1 paper

NM_000215.4

p.L145R

c.434T>G

1 paper

NM_000215.4

p.L145Q

c.434T>A

5 papers

NM_000215.4

p.Q140_H141Splc

c.421-10G>A

1 paper

NM_000215.4

p.S147T

c.440G>C