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

2 papers

NM_004972.4

p.F365F

c.1095C>T

Surrounding Variants

1 paper

NM_004972.4

p.F365L

c.1095C>A

1 paper

NM_004972.4

p.F365L

c.1095C>G

3 papers

NM_004972.4

p.V366M

c.1096G>A

1 paper

NM_004972.4

p.V366_A377delFs

c.1097_1130del34

1 paper

NM_004972.4

p.F365L

c.1093T>C

1 paper

NM_004972.4

p.V366G

c.1097T>G

5 papers

NM_004972.4

p.F365_H380delFs

c.1094_1139del46

2 papers

NM_004972.4

p.F365_T376delFs

c.1093_1126del34

3 papers

NM_004972.4

p.F365_H380delFs

c.1093_1138del46

2 papers

NM_004972.4

p.S364C

c.1091C>G

3 papers

NM_004972.4

p.S364_L375delFs

c.1092_1125del34

4 papers

NM_004972.4

p.S367delFs

c.1100delC