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.E522delFs

c.1564_1565delTC

Surrounding Variants

1 paper

NM_000215.4

p.W523G

c.1567T>G

3 papers

NM_000215.4

p.W523*

c.1568G>A

1 paper

NM_000215.4

p.W523C

c.1569G>T

3 papers

NM_000215.4

p.W523*

c.1569G>A

1 paper

NM_000215.4

p.W523_H524Splc

c.1569+1G>T

1 paper

NM_000215.4

p.E522fs

c.1564_1565fs

1 paper

NM_000215.4

p.D519N

c.1555G>A

1 paper

NM_000215.4

p.P517P

c.1551T>C

1 paper

NM_000215.4

p.H514N

c.1540C>A

1 paper

NM_000215.4

p.T512_F513delFs

c.1536_1537delAT

1 paper

NM_000215.4

p.T512I

c.1535C>T

125 papers

NM_000215.4

p.M511I

c.1533G>T