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

4 papers

NM_004972.4

p.S367delFs

c.1100delC

Surrounding Variants

1 paper

NM_004972.4

p.S367_D378delFs

c.1100_1133del34

2 papers

NM_004972.4

p.S367_Y382delFs

c.1100_1145del46

1 paper

NM_004972.4

p.S367_D378Fs

c.1100_1134delinsAFs

1 paper

NM_004972.4

p.S367_A379delFs

c.1101_1137del37

2 papers

NM_004972.4

p.L368_A379delFs

c.1102_1135del34

1 paper

NM_004972.4

p.V366G

c.1097T>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.L368V

c.1102T>G

3 papers

NM_004972.4

p.L368insFs

c.1102_1103insC

1 paper

NM_004972.4

p.L368_A379Fs

c.1102_1137delinsGAFs

2 papers

NM_004972.4

p.L368_A379delFs

c.1103_1136del34