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.R360S

c.1080G>C

Surrounding Variants

1 paper

NM_004972.4

p.R360S

c.1080G>T

1 paper

NM_004972.4

p.R360K

c.1079G>A

1 paper

NM_004972.4

p.R360M

c.1079G>T

2 papers

NM_004972.4

p.R360W

c.1078A>T

1 paper

NM_004972.4

p.A362P

c.1084G>C

3 papers

NM_004972.4

p.L359I

c.1075T>A

2 papers

NM_004972.4

p.S358L

c.1073C>T

2 papers

NM_004972.4

p.S364_L375delFs

c.1091_1124del34

2 papers

NM_004972.4

p.S364C

c.1091C>G

3 papers

NM_004972.4

p.S364_L375delFs

c.1092_1125del34

2 papers

NM_004972.4

p.F365_T376delFs

c.1093_1126del34

3 papers

NM_004972.4

p.F365_H380delFs

c.1093_1138del46