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

43 papers

NM_000215.4

p.P132T

c.394C>A

Surrounding Variants

2 papers

NM_000215.4

p.P132S

c.394C>T

6 papers

NM_000215.4

p.P132A

c.394C>G

1 paper

NM_000215.4

p.L131L

c.393G>A

1 paper

NM_000215.4

p.P132P

c.396A>G

1 paper

NM_000215.4

p.V133I

c.397G>A

1 paper

NM_000215.4

p.L131L

c.391C>T

1 paper

NM_000215.4

p.D130A

c.389A>C

1 paper

NM_000215.4

p.D130H

c.388G>C

1 paper

NM_000215.4

p.D130fs

c.388_389fs

1 paper

NM_000215.4

p.L129delFs

c.385delG

1 paper

NM_000215.4

p.E135Q

c.403G>C

2 papers

NM_000215.4

p.E135K

c.403G>A