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.F547_N548Splc

c.1642-1G>T

Surrounding Variants

1 paper

NM_004972.4

p.F547_N548Splc

c.1642-1G>A

1 paper

NM_004972.4

p.E549_F556ins2

c.1645_1668dup24

2 papers

NM_004972.4

p.E549K

c.1645G>A

1 paper

NM_004972.4

p.E549G

c.1646A>G

1 paper

NM_004972.4

p.S550fs

c.1648_1649fs

1 paper

NM_004972.4

p.S550N

c.1649G>A

1 paper

NM_004972.4

p.L551I

c.1651C>A

1 paper

NM_004972.4

p.L551F

c.1651C>T

1 paper

NM_004972.4

p.L551P

c.1652T>C

1 paper

NM_004972.4

p.G552C

c.1654G>T

1 paper

NM_004972.4

p.G552A

c.1655G>C

1 paper

NM_004972.4

p.Q553H

c.1659A>C