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

1 paper

NM_004972.4

p.V881A

c.2642T>C

Surrounding Variants

1 paper

NM_004972.4

p.V881fs

c.2641_2642fs

21 papers

NM_004972.4

p.K882E

c.2644A>G

3 papers

NM_004972.4

p.K882R

c.2645A>G

1 paper

NM_004972.4

p.A880T

c.2638G>A

1 paper

NM_004972.4

p.A880insFs

c.2638_2639ins14

1 paper

NM_004972.4

p.A880fs

c.2638_2639fs

2 papers

NM_004972.4

p.K883E

c.2647A>G

1 paper

NM_004972.4

p.K883R

c.2648A>G

1 paper

NM_004972.4

p.V879A

c.2636T>C

1 paper

NM_004972.4

p.V878V

c.2634G>A

8 papers

NM_004972.4

p.L884P

c.2651T>C

1 paper

NM_004972.4

p.V878A

c.2633T>C