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

1–12 of 1517 variants

159 papers

NM_000215.4

p.V722I

c.2164G>A

126 papers

NM_000215.4

p.M511I

c.1533G>A

125 papers

NM_000215.4

p.M511I

c.1533G>T

124 papers

NM_000215.4

p.M511I

c.1533G>C

113 papers

NM_000215.4

p.A573V

c.1718C>T

101 papers

NM_000215.4

p.A572V

c.1715C>T

92 papers

NM_000215.4

p.R657Q

c.1970G>A

43 papers

NM_000215.4

p.P132T

c.394C>A

33 papers

NM_000215.4

p.V674A

c.2021T>C

29 papers

NM_000215.4

p.L857P

c.2570T>C

23 papers

NM_000215.4

p.P151R

c.452C>G

21 papers

NM_000215.4

p.R657W

c.1969C>T