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.Y813*

c.2439T>A

Surrounding Variants

1 paper

NM_004972.4

p.Y813*

c.2439T>G

4 papers

NM_004972.4

p.Y813C

c.2438A>G

2 papers

NM_004972.4

p.Y813F

c.2438A>T

6 papers

NM_004972.4

p.Y813D

c.2437T>G

1 paper

NM_004972.4

p.L815I

c.2443C>A

1 paper

NM_004972.4

p.L816del1

c.2446_2448delTTA

1 paper

NM_004972.4

p.L815Q

c.2444T>A

1 paper

NM_004972.4

p.L815P

c.2444T>C

1 paper

NM_004972.4

p.T817del1

c.2449_2450delACA

1 paper

NM_004972.4

p.D820Y

c.2458G>T

1 paper

NM_004972.4

p.D820A

c.2459A>C

2 papers

NM_004972.4

p.D820G

c.2459A>G