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.D1068H

c.3202G>C

Surrounding Variants

2 papers

NM_004972.4

p.N1067S

c.3200A>G

1 paper

NM_004972.4

p.G1071R

c.3211G>A

1 paper

NM_004972.4

p.G1071R

c.3211G>C

1 paper

NM_004972.4

p.G1071E

c.3212G>A

1 paper

NM_004972.4

p.G1071V

c.3212G>T

66 papers

NM_004972.4

p.R1063H

c.3188G>A

1 paper

NM_004972.4

p.R1063P

c.3188G>C

3 papers

NM_004972.4

p.R1063C

c.3187C>T

1 paper

NM_004972.4

p.I1074F

c.3220A>T

1 paper

NM_004972.4

p.V1075M

c.3223G>A

1 paper

NM_004972.4

p.V1075L

c.3223G>C

1 paper

NM_004972.4

p.V1075L

c.3223G>T