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

1–12 of 2047 variants

4434 papers

NM_004972.4

p.V617F

c.1849G>T

148 papers

NM_004972.4

p.R683G

c.2047A>G

90 papers

NM_004972.4

p.E543del1

c.1627_1628delGAA

85 papers

NM_004972.4

p.R683S

c.2049A>C

85 papers

NM_004972.4

p.R683S

c.2049A>T

71 papers

NM_004972.4

p.T875N

c.2624C>A

67 papers

NM_004972.4

p.V617I

c.1849G>A

66 papers

NM_004972.4

p.R1063H

c.3188G>A

59 papers

NM_004972.4

p.R564Q

c.1691G>A

57 papers

NM_004972.4

p.L611S

c.1832T>C

56 papers

NM_004972.4

p.G571S

c.1711G>A

47 papers

NM_004972.4

p.R867Q

c.2600G>A