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.S593C

c.1778C>G

Surrounding Variants

3 papers

NM_004972.4

p.S593F

c.1778C>T

1 paper

NM_004972.4

p.S593_F595delFs

c.1779_1783del5

2 papers

NM_004972.4

p.E592_S593Splc

c.1777-1G>T

1 paper

NM_004972.4

p.S593_F595del3

c.1777_1784del9

1 paper

NM_004972.4

p.E592_S593Splc

c.1777-2A>G

2 papers

NM_004972.4

p.E592_S593Splc

c.1777-2A>T

2 papers

NM_004972.4

p.F595I

c.1783T>A

6 papers

NM_004972.4

p.F595L

c.1783T>C

1 paper

NM_004972.4

p.F595V

c.1783T>G

2 papers

NM_004972.4

p.F595Y

c.1784T>A

6 papers

NM_004972.4

p.F595L

c.1785T>A

6 papers

NM_004972.4

p.F595L

c.1785T>G