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.K539T

c.1616A>C

Surrounding Variants

3 papers

NM_004972.4

p.K539R

c.1616A>G

15 papers

NM_004972.4

p.K539I

c.1616A>T

22 papers

NM_004972.4

p.K539E

c.1615A>G

2 papers

NM_004972.4

p.K539*

c.1615A>T

2 papers

NM_004972.4

p.K539delins

c.1615_1616delinsCT

5 papers

NM_004972.4

p.K539delins

c.1615_1616delinsTT

1 paper

NM_004972.4

p.I540del1

c.1618_1619delATC

16 papers

NM_004972.4

p.I540V

c.1618A>G

11 papers

NM_004972.4

p.H538Q

c.1614C>A

11 papers

NM_004972.4

p.H538Q

c.1614C>G

3 papers

NM_004972.4

p.H538_K539delins

c.1614_1616delinsATT

1 paper

NM_004972.4

p.H538_K539delins

c.1614_1616delinsGTT