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.P403delFs

c.1209delA

Surrounding Variants

1 paper

NM_004972.4

p.I404N

c.1211T>A

1 paper

NM_004972.4

p.G402S

c.1204G>A

1 paper

NM_004972.4

p.S405fs

c.1213_1214fs

1 paper

NM_004972.4

p.C400G

c.1198T>G

1 paper

NM_004972.4

p.N399delFs

c.1195delA

1 paper

NM_004972.4

p.S398I

c.1193G>T

6 papers

NM_004972.4

p.Q397_S398insFs

c.1191_1192insG

1 paper

NM_004972.4

p.Q397H

c.1191A>C

1 paper

NM_004972.4

p.Q397H

c.1191A>T

1 paper

NM_004972.4

p.Q397insFs

c.1190_1191insA

2 papers

NM_004972.4

p.Q397*

c.1189C>T

1 paper

NM_004972.4

p.I396I

c.1188A>C