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

159 papers

NM_000215.4

p.V722I

c.2164G>A

Surrounding Variants

1 paper

NM_000215.4

p.V722F

c.2164G>T

1 paper

NM_000215.4

p.V722_T723ins4

c.2164_2168ins12

1 paper

NM_000215.4

p.V722L

c.2164G>C

1 paper

NM_000215.4

p.V722A

c.2165T>C

2 papers

NM_000215.4

p.G721D

c.2162G>A

3 papers

NM_000215.4

p.G721S

c.2161G>A

1 paper

NM_000215.4

p.T723A

c.2167A>G

1 paper

NM_000215.4

p.S720R

c.2160T>G

1 paper

NM_000215.4

p.S720R

c.2160T>A

1 paper

NM_000215.4

p.T723I

c.2168C>T

1 paper

NM_000215.4

p.S720N

c.2159G>A

1 paper

NM_000215.4

p.S720C

c.2158A>T