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

7 papers

NM_000215.4

p.E542K

c.1624G>A

Surrounding Variants

1 paper

NM_000215.4

p.R540L

c.1619G>T

2 papers

NM_000215.4

p.R540H

c.1619G>A

2 papers

NM_000215.4

p.V544A

c.1631T>C

1 paper

NM_000215.4

p.C539Y

c.1616G>A

1 paper

NM_000215.4

p.G538fs

c.1612_1613fs

3 papers

NM_000215.4

p.G538D

c.1613G>A

1 paper

NM_000215.4

p.G546R

c.1636G>C

1 paper

NM_000215.4

p.G546R

c.1636G>A

1 paper

NM_000215.4

p.G538S

c.1612G>A

2 papers

NM_000215.4

p.R537Q

c.1610G>A

3 papers

NM_000215.4

p.R537W

c.1609C>T

1 paper

NM_000215.4

p.E547G

c.1640A>G