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.G614R

c.1840G>C

Surrounding Variants

1 paper

NM_004972.4

p.G614R

c.1840G>A

1 paper

NM_004972.4

p.G614fs

c.1840_1841fs

1 paper

NM_004972.4

p.Y613Y

c.1839T>C

1 paper

NM_004972.4

p.Y613S

c.1838A>C

3 papers

NM_004972.4

p.Y613C

c.1838A>G

2 papers

NM_004972.4

p.Y613F

c.1838A>T

10 papers

NM_004972.4

p.V615L

c.1843G>C

10 papers

NM_004972.4

p.V615L

c.1843G>T

1 paper

NM_004972.4

p.Y613D

c.1837T>G

1 paper

NM_004972.4

p.V615A

c.1844T>C

1 paper

NM_004972.4

p.N612S

c.1835A>G

1 paper

NM_004972.4

p.C616_V617del2

c.1846_1850del6