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.C917S

c.2749T>A

Surrounding Variants

1 paper

NM_004972.4

p.C917S

c.2750G>C

1 paper

NM_004972.4

p.C917*

c.2751C>A

1 paper

NM_004972.4

p.V916A

c.2747T>C

1 paper

NM_004972.4

p.Y918N

c.2752T>A

2 papers

NM_004972.4

p.Y918H

c.2752T>C

1 paper

NM_004972.4

p.Y918F

c.2753A>T

1 paper

NM_004972.4

p.G915V

c.2744G>T

1 paper

NM_004972.4

p.K914E

c.2740A>G

1 paper

NM_004972.4

p.Y913F

c.2738A>T

1 paper

NM_004972.4

p.V911L

c.2731G>C

1 paper

NM_004972.4

p.V911L

c.2731G>T

1 paper

NM_004972.4

p.N909K

c.2727C>A