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.S126C

c.376A>T

Surrounding Variants

1 paper

NM_000215.4

p.A125V

c.374C>T

1 paper

NM_000215.4

p.I128M

c.384C>G

1 paper

NM_000215.4

p.D123N

c.367G>A

2 papers

NM_000215.4

p.L129F

c.385C>T

1 paper

NM_000215.4

p.L129delFs

c.385delG

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.K122E

c.364A>G

1 paper

NM_000215.4

p.D130A

c.389A>C

1 paper

NM_000215.4

p.R121L

c.362G>T

2 papers

NM_000215.4

p.R121H

c.362G>A

2 papers

NM_000215.4

p.R121C

c.361C>T