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.D840G

c.2519A>G

Surrounding Variants

2 papers

NM_004972.4

p.D840N

c.2518G>A

1 paper

NM_004972.4

p.D840H

c.2518G>C

1 paper

NM_004972.4

p.P841R

c.2522C>G

2 papers

NM_004972.4

p.R839Q

c.2516G>A

1 paper

NM_004972.4

p.D838G

c.2513A>G

1 paper

NM_004972.4

p.A835A

c.2505C>A

1 paper

NM_004972.4

p.E845K

c.2533G>A

1 paper

NM_004972.4

p.E845*

c.2533G>T

2 papers

NM_004972.4

p.A835T

c.2503G>A

1 paper

NM_004972.4

p.A835S

c.2503G>T

1 paper

NM_004972.4

p.E846K

c.2536G>A

2 papers

NM_004972.4

p.E846Q

c.2536G>C