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.L654ins5

c.1960_1961ins15

Surrounding Variants

1 paper

NM_000215.4

p.V653M

c.1957G>A

1 paper

NM_000215.4

p.K652fs

c.1954_1955fs

1 paper

NM_000215.4

p.K652delFs

c.1955delT

1 paper

NM_000215.4

p.R651R

c.1953G>A

1 paper

NM_000215.4

p.A656D

c.1967C>A

2 papers

NM_000215.4

p.R651Q

c.1952G>A

21 papers

NM_000215.4

p.R657W

c.1969C>T

15 papers

NM_000215.4

p.R651W

c.1951C>T

1 paper

NM_000215.4

p.R657R

c.1969C>A

92 papers

NM_000215.4

p.R657Q

c.1970G>A

2 papers

NM_000215.4

p.E658K

c.1972G>A

1 paper

NM_000215.4

p.S649Y

c.1946C>A