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.E890*

c.2668G>T

Surrounding Variants

6 papers

NM_004972.4

p.E890K

c.2668G>A

3 papers

NM_004972.4

p.E890G

c.2669A>G

1 paper

NM_004972.4

p.E890V

c.2669A>T

1 paper

NM_004972.4

p.H891Y

c.2671C>T

1 paper

NM_004972.4

p.T888A

c.2662A>G

7 papers

NM_004972.4

p.L892V

c.2674C>G

1 paper

NM_004972.4

p.L892_I899delFs

c.2675_2697del23

1 paper

NM_004972.4

p.R893fs

c.2677_2678fs

2 papers

NM_004972.4

p.R893T

c.2678G>C

1 paper

NM_004972.4

p.R893I

c.2678G>T

10 papers

NM_004972.4

p.D894G

c.2681A>G

1 paper

NM_004972.4

p.Q885R

c.2654A>G