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.V188_S189delFs

c.563_566del4

Surrounding Variants

1 paper

NM_000215.4

p.S189Splc

c.566+1G>T

1 paper

NM_000215.4

p.S189N

c.566G>A

1 paper

NM_000215.4

p.T187delFs

c.561delA

1 paper

NM_000215.4

p.K186M

c.557A>T

1 paper

NM_000215.4

p.K186R

c.557A>G

1 paper

NM_000215.4

p.K186T

c.557A>C

1 paper

NM_000215.4

p.L185_K186insFs

c.555_556insA

1 paper

NM_000215.4

p.L185L

c.555G>A

1 paper

NM_000215.4

p.L185L

c.553C>T

6 papers

NM_000215.4

p.E183G

c.548A>G

2 papers

NM_000215.4

p.G182E

c.545G>A

1 paper

NM_000215.4

p.P181L

c.542C>T