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

2 papers

NM_000215.4

p.H645R

c.1934A>G

Surrounding Variants

1 paper

NM_000215.4

p.H645Y

c.1933C>T

1 paper

NM_000215.4

p.G646fs

c.1936_1937fs

2 papers

NM_000215.4

p.P644L

c.1931C>T

1 paper

NM_000215.4

p.P644S

c.1930C>T

1 paper

NM_000215.4

p.P644_G646del3

c.1930_1937del9

1 paper

NM_000215.4

p.L643insFs

c.1928_1929insA

5 papers

NM_000215.4

p.N647I

c.1940A>T

2 papers

NM_000215.4

p.G642V

c.1925G>T

1 paper

NM_000215.4

p.G642A

c.1925G>C

1 paper

NM_000215.4

p.G642D

c.1925G>A

1 paper

NM_000215.4

p.G642C

c.1924G>T

1 paper

NM_000215.4

p.G642R

c.1924G>C