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

59 papers

NM_004972.4

p.R564Q

c.1691G>A

Surrounding Variants

22 papers

NM_004972.4

p.R564L

c.1691G>T

1 paper

NM_004972.4

p.R564fs

c.1690_1691fs

3 papers

NM_004972.4

p.R564*

c.1690C>T

4 papers

NM_004972.4

p.V563I

c.1687G>A

NM_001322204.2

p.V414I

c.1240G>A

1 paper

NM_004972.4

p.G562G

c.1686C>T

1 paper

NM_004972.4

p.V567L

c.1699G>C

1 paper

NM_004972.4

p.V567L

c.1699G>T

5 papers

NM_004972.4

p.V567A

c.1700T>C

1 paper

NM_004972.4

p.F560V

c.1678T>G

1 paper

NM_004972.4

p.D569A

c.1706A>C

1 paper

NM_004972.4

p.I559L

c.1675A>C

4 papers

NM_004972.4

p.I559F

c.1675A>T