Varaico: Literature-Extracted Genetic Variants

JAK2

5,910 papers

RefSeq Summary

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required ...

Pfam Domains

FERM_F1aa 39–134UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 142–261UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 299–381UCSCJak1 pleckstrin homology-like domain

SH2_1aa 398–501UCSCSH2 domain

PK_Tyr_Ser-Thraa 545–805UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 849–1123UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 2

HGNC Alias Symbol

JTK10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

44 papers

NM_004972.4

p.E846D

c.2538G>C

Surrounding Variants

43 papers

NM_004972.4

p.E846D

c.2538G>T

1 paper

NM_004972.4

p.E846V

c.2537A>T

1 paper

NM_004972.4

p.E846K

c.2536G>A

1 paper

NM_004972.4

p.R847K

c.2540G>A

2 papers

NM_004972.4

p.E846Q

c.2536G>C

1 paper

NM_004972.4

p.E846*

c.2536G>T

1 paper

NM_004972.4

p.R847R

c.2541A>G

1 paper

NM_004972.4

p.H848P

c.2543A>C

1 paper

NM_004972.4

p.E845K

c.2533G>A

1 paper

NM_004972.4

p.E845*

c.2533G>T

1 paper

NM_004972.4

p.H848H

c.2544T>C

1 paper

NM_004972.4

p.K850N

c.2550A>C