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

92 papers

NM_000215.4

p.R657Q

c.1970G>A

Surrounding Variants

21 papers

NM_000215.4

p.R657W

c.1969C>T

1 paper

NM_000215.4

p.R657R

c.1969C>A

2 papers

NM_000215.4

p.E658K

c.1972G>A

1 paper

NM_000215.4

p.A656D

c.1967C>A

1 paper

NM_000215.4

p.G659R

c.1975G>C

1 paper

NM_000215.4

p.G659R

c.1975G>A

1 paper

NM_000215.4

p.A660T

c.1978G>A

1 paper

NM_000215.4

p.A660V

c.1979C>T

1 paper

NM_000215.4

p.L654ins5

c.1960_1961ins15

6 papers

NM_000215.4

p.D661Y

c.1981G>T

2 papers

NM_000215.4

p.D661H

c.1981G>C

3 papers

NM_000215.4

p.D661V

c.1982A>T