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.V582A

c.1745T>C

Surrounding Variants

1 paper

NM_004972.4

p.L583_A586del0

c.1748_1756del9

1 paper

NM_004972.4

p.L583_A586delins

c.1747_1756delinsT

1 paper

NM_004972.4

p.K581R

c.1742A>G

1 paper

NM_004972.4

p.L583P

c.1748T>C

1 paper

NM_004972.4

p.L583_D584insFs

c.1749_1750dupGG

1 paper

NM_004972.4

p.L583_A586delins

c.1748_1757delinsA

1 paper

NM_004972.4

p.D584N

c.1750G>A

1 paper

NM_004972.4

p.D584E

c.1752T>A

1 paper

NM_004972.4

p.L580fs

c.1738_1739fs

1 paper

NM_004972.4

p.K585*

c.1753A>T

1 paper

NM_004972.4

p.A586del1

c.1756_1757delGCA

1 paper

NM_004972.4

p.L579P

c.1736T>C