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

3 papers

NM_004972.4

p.D686H

c.2056G>C

Surrounding Variants

1 paper

NM_004972.4

p.D686_R687insA

c.2056_2060ins3

2 papers

NM_004972.4

p.D686Y

c.2056G>T

2 papers

NM_004972.4

p.D686A

c.2057A>C

2 papers

NM_004972.4

p.D686G

c.2057A>G

2 papers

NM_004972.4

p.D686V

c.2057A>T

1 paper

NM_004972.4

p.D686del1

c.2056_2057delGAC

1 paper

NM_004972.4

p.E685K

c.2053G>A

1 paper

NM_004972.4

p.E684K

c.2050G>A

1 paper

NM_004972.4

p.E684Q

c.2050G>C

85 papers

NM_004972.4

p.R683S

c.2049A>C

85 papers

NM_004972.4

p.R683S

c.2049A>T

6 papers

NM_004972.4

p.R683K

c.2048G>A