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

2 papers

NM_004972.4

p.D544N

c.1630G>A

Surrounding Variants

1 paper

NM_004972.4

p.D544H

c.1630G>C

1 paper

NM_004972.4

p.D544fs

c.1630_1631fs

2 papers

NM_004972.4

p.E543D

c.1629A>C

1 paper

NM_004972.4

p.D544A

c.1631A>C

4 papers

NM_004972.4

p.D544G

c.1631A>G

2 papers

NM_004972.4

p.E543D

c.1629A>T

42 papers

NM_004972.4

p.D544del1

c.1630_1631delGAT

1 paper

NM_004972.4

p.E543_D544Fs

c.1629_1632delinsGAAFs

1 paper

NM_004972.4

p.D544_L545del0

c.1630_1635del6

3 papers

NM_004972.4

p.E543A

c.1628A>C

2 papers

NM_004972.4

p.E543G

c.1628A>G

4 papers

NM_004972.4

p.L545del1

c.1633_1634delTTG