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.S605A

c.1813T>G

Surrounding Variants

1 paper

NM_004972.4

p.S605Y

c.1814C>A

2 papers

NM_004972.4

p.S605F

c.1814C>T

2 papers

NM_004972.4

p.L604P

c.1811T>C

1 paper

NM_004972.4

p.L604V

c.1810C>G

2 papers

NM_004972.4

p.L604F

c.1810C>T

2 papers

NM_004972.4

p.H606Y

c.1816C>T

1 paper

NM_004972.4

p.K603N

c.1809G>C

1 paper

NM_004972.4

p.K603N

c.1809G>T

1 paper

NM_004972.4

p.K603T

c.1808A>C

7 papers

NM_004972.4

p.H606Q

c.1818C>A

7 papers

NM_004972.4

p.H606Q

c.1818C>G

1 paper

NM_004972.4

p.K607_V610del4

c.1819_1829del12