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.P731_A732ins9

c.2191_2195ins27

Surrounding Variants

1 paper

NM_000215.4

p.P731S

c.2191C>T

1 paper

NM_000215.4

p.D730_P731ins9

c.2188_2192ins27

1 paper

NM_000215.4

p.D730N

c.2188G>A

2 papers

NM_000215.4

p.L729L

c.2187G>T

1 paper

NM_000215.4

p.A728delFs

c.2184delG

1 paper

NM_000215.4

p.L729fs

c.2185_2186fs

2 papers

NM_000215.4

p.K733N

c.2199G>T

3 papers

NM_000215.4

p.K733fs

c.2197_2198fs

2 papers

NM_000215.4

p.K733N

c.2199G>C

1 paper

NM_000215.4

p.A728_L729ins8

c.2182_2186ins24

2 papers

NM_000215.4

p.K733_K734Splc

c.2199+1G>A

1 paper

NM_000215.4

p.S727R

c.2181T>G