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.C618Y

c.1853G>A

Surrounding Variants

1 paper

NM_004972.4

p.C618S

c.1853G>C

9 papers

NM_004972.4

p.C618F

c.1853G>T

1 paper

NM_004972.4

p.C618S

c.1852T>A

33 papers

NM_004972.4

p.C618R

c.1852T>C

4 papers

NM_004972.4

p.V617V

c.1851C>T

1 paper

NM_004972.4

p.G619*

c.1855G>T

1 paper

NM_004972.4

p.G619E

c.1856G>A

1 paper

NM_004972.4

p.V617D

c.1850T>A

3 papers

NM_004972.4

p.V617A

c.1850T>C

1 paper

NM_004972.4

p.V617G

c.1850T>G

67 papers

NM_004972.4

p.V617I

c.1849G>A

10 papers

NM_004972.4

p.V617L

c.1849G>C