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.A699P

c.2095G>C

Surrounding Variants

1 paper

NM_000215.4

p.A699S

c.2095G>T

1 paper

NM_000215.4

p.A699T

c.2095G>A

2 papers

NM_000215.4

p.A699V

c.2096C>T

1 paper

NM_000215.4

p.A699G

c.2096C>G

2 papers

NM_000215.4

p.A699E

c.2096C>A

3 papers

NM_000215.4

p.A699A

c.2097G>A

6 papers

NM_000215.4

p.E698*

c.2092G>T

3 papers

NM_000215.4

p.E698K

c.2092G>A

1 paper

NM_000215.4

p.Q700fs

c.2098_2099fs

2 papers

NM_000215.4

p.R697Q

c.2090G>A

1 paper

NM_000215.4

p.C695_R697delFs

c.2085_2089del5

2 papers

NM_000215.4

p.R697W

c.2089C>T