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.W716R

c.2146T>A

Surrounding Variants

2 papers

NM_000215.4

p.W716R

c.2146T>C

3 papers

NM_000215.4

p.W716*

c.2147G>A

13 papers

NM_000215.4

p.V715A

c.2144T>C

3 papers

NM_000215.4

p.W716*

c.2148G>A

15 papers

NM_000215.4

p.V715I

c.2143G>A

1 paper

NM_000215.4

p.E717K

c.2149G>A

1 paper

NM_000215.4

p.W716_E717delFs

c.2148_2149delCC

10 papers

NM_000215.4

p.T714M

c.2141C>T

12 papers

NM_000215.4

p.V718L

c.2152G>T

13 papers

NM_000215.4

p.V718L

c.2152G>C

1 paper

NM_000215.4

p.T714A

c.2140A>G

1 paper

NM_000215.4

p.Q700_A713delFs

c.2099_2138del40