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

113 papers

NM_000215.4

p.A573V

c.1718C>T

Surrounding Variants

1 paper

NM_000215.4

p.A572delFs

c.1716delT

101 papers

NM_000215.4

p.A572V

c.1715C>T

20 papers

NM_000215.4

p.A572T

c.1714G>A

2 papers

NM_000215.4

p.L575W

c.1724T>G

2 papers

NM_000215.4

p.L575F

c.1725G>T

2 papers

NM_000215.4

p.L575F

c.1725G>C

1 paper

NM_000215.4

p.E571K

c.1711G>A

1 paper

NM_000215.4

p.L570L

c.1710G>A

3 papers

NM_000215.4

p.M576L

c.1726A>T

3 papers

NM_000215.4

p.M576L

c.1726A>C

1 paper

NM_000215.4

p.M576K

c.1727T>A

1 paper

NM_000215.4

p.S577fs

c.1729_1730fs