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.A829P

c.2485G>C

Surrounding Variants

1 paper

NM_004972.4

p.A829T

c.2485G>A

1 paper

NM_004972.4

p.L830V

c.2488C>G

1 paper

NM_004972.4

p.L830delins

c.2488_2489delinsTA

1 paper

NM_004972.4

p.L830P

c.2489T>C

13 papers

NM_004972.4

p.L830L

c.2490G>A

1 paper

NM_004972.4

p.I827L

c.2479A>C

1 paper

NM_004972.4

p.I827L

c.2479A>T

1 paper

NM_004972.4

p.G831R

c.2491G>A

1 paper

NM_004972.4

p.G831R

c.2491G>C

1 paper

NM_004972.4

p.R826delFs

c.2477delG

2 papers

NM_004972.4

p.G834S

c.2500G>A

1 paper

NM_004972.4

p.A835_F844del10

c.2503_2531del30