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.R897K

c.2690G>A

Surrounding Variants

2 papers

NM_004972.4

p.E898K

c.2692G>A

1 paper

NM_004972.4

p.E896A

c.2687A>C

1 paper

NM_004972.4

p.I899_V911del13

c.2695_2732del39

1 paper

NM_004972.4

p.I899N

c.2696T>A

14 papers

NM_004972.4

p.I899T

c.2696T>C

1 paper

NM_004972.4

p.I899_E900insFs

c.2697_2698insA

1 paper

NM_004972.4

p.D894E

c.2682C>A

1 paper

NM_004972.4

p.D894E

c.2682C>G

3 papers

NM_004972.4

p.E900Q

c.2698G>C

1 paper

NM_004972.4

p.E900fs

c.2698_2699fs

1 paper

NM_004972.4

p.E900A

c.2699A>C

10 papers

NM_004972.4

p.D894G

c.2681A>G