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.E694*

c.2080G>T

Surrounding Variants

8 papers

NM_000215.4

p.E694K

c.2080G>A

1 paper

NM_000215.4

p.E694V

c.2081A>T

1 paper

NM_000215.4

p.E694D

c.2082G>T

1 paper

NM_000215.4

p.E694D

c.2082G>C

2 papers

NM_000215.4

p.P693L

c.2078C>T

1 paper

NM_000215.4

p.P693T

c.2077C>A

1 paper

NM_000215.4

p.C695Y

c.2084G>A

1 paper

NM_000215.4

p.C695fs

c.2083_2084fs

1 paper

NM_000215.4

p.A692D

c.2075C>A

1 paper

NM_000215.4

p.A692T

c.2074G>A

1 paper

NM_000215.4

p.L696R

c.2087T>G

1 paper

NM_000215.4

p.V691G

c.2072T>G