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.K677E

c.2029A>G

Surrounding Variants

1 paper

NM_004972.4

p.K677T

c.2030A>C

1 paper

NM_004972.4

p.N678insFs

c.2033dupA

2 papers

NM_004972.4

p.N678fs

c.2032_2033fs

2 papers

NM_004972.4

p.C675W

c.2025T>G

1 paper

NM_004972.4

p.I679V

c.2035A>G

3 papers

NM_004972.4

p.V674A

c.2021T>C

1 paper

NM_004972.4

p.L680_E684del0

c.2038_2052del15

1 paper

NM_004972.4

p.V674I

c.2020G>A

2 papers

NM_004972.4

p.V674L

c.2020G>C

1 paper

NM_004972.4

p.V674fs

c.2020_2021fs

2 papers

NM_004972.4

p.V674L

c.2020G>T

1 paper

NM_004972.4

p.L680P

c.2039T>C