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.A379Fs

c.1137delinsGAFs

Surrounding Variants

1 paper

NM_004972.4

p.A379_K385Fs

c.1137_1154delinsCCATCCTTGTCFs

1 paper

NM_004972.4

p.A379insFs

c.1135_1136insA

1 paper

NM_004972.4

p.A379Fs

c.1137delinsCAFs

1 paper

NM_004972.4

p.A379_H380insFs

c.1137_1138insCA

1 paper

NM_004972.4

p.H380N

c.1138C>A

1 paper

NM_004972.4

p.H380D

c.1138C>G

1 paper

NM_004972.4

p.H380delFs

c.1139delA

1 paper

NM_004972.4

p.D378delins

c.1134delinsA

1 paper

NM_004972.4

p.A379_L383delFs

c.1135_1147del13

1 paper

NM_004972.4

p.H380insFs

c.1139_1140insTC

1 paper

NM_004972.4

p.H380L

c.1139A>T

2 papers

NM_004972.4

p.D378N

c.1132G>A