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

71 papers

NM_004972.4

p.T875N

c.2624C>A

Surrounding Variants

2 papers

NM_004972.4

p.T875S

c.2624C>G

2 papers

NM_004972.4

p.T875A

c.2623A>G

2 papers

NM_004972.4

p.T875S

c.2623A>T

1 paper

NM_004972.4

p.G876R

c.2626G>A

1 paper

NM_004972.4

p.G876R

c.2626G>C

1 paper

NM_004972.4

p.G876E

c.2627G>A

2 papers

NM_004972.4

p.D873E

c.2619C>A

2 papers

NM_004972.4

p.D873E

c.2619C>G

1 paper

NM_004972.4

p.E877*

c.2629G>T

2 papers

NM_004972.4

p.D873A

c.2618A>C

2 papers

NM_004972.4

p.E877A

c.2630A>C

1 paper

NM_004972.4

p.D873G

c.2618A>G