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

11 papers

NM_004972.4

p.N542_E543del0

c.1624_1629del6

Surrounding Variants

3 papers

NM_004972.4

p.R541K

c.1622G>A

2 papers

NM_004972.4

p.R541I

c.1622G>T

1 paper

NM_004972.4

p.R541_N542delins

c.1623_1624delinsTT

1 paper

NM_004972.4

p.R541_E543delins

c.1623_1629delinsG

2 papers

NM_004972.4

p.R541_E543del0

c.1622_1627del6

10 papers

NM_004972.4

p.E543_D544del0

c.1627_1632del6

3 papers

NM_004972.4

p.I540_E543delins

c.1620_1627delinsGA

1 paper

NM_004972.4

p.N542S

c.1625A>G

1 paper

NM_004972.4

p.I540N

c.1619T>A

19 papers

NM_004972.4

p.I540T

c.1619T>C

3 papers

NM_004972.4

p.I540S

c.1619T>G

1 paper

NM_004972.4

p.I540_E543Fs

c.1619_1627delinsGAFs