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

13 papers

NM_004972.4

p.K385insFs

c.1154_1155ins5

Surrounding Variants

3 papers

NM_004972.4

p.K385insFs

c.1154_1155ins5

1 paper

NM_004972.4

p.K385Fs

c.1154delinsCCATCCTTGTCFs

2 papers

NM_004972.4

p.K385Fs

c.1154delinsCTTGTCFs

1 paper

NM_004972.4

p.K385delins

c.1154delinsTGTC

29 papers

NM_004972.4

p.K385fs

c.1153_1154fs

1 paper

NM_004972.4

p.K385insFs

c.1153_1154ins5

1 paper

NM_004972.4

p.K385_E386insFs

c.1155_1156ins5

2 papers

NM_004972.4

p.K385_E386insFs

c.1155_1156ins5

1 paper

NM_004972.4

p.K385Fs

c.1153_1154delinsTGTCFs

3 papers

NM_004972.4

p.K385fs

c.1153_1154fs

1 paper

NM_004972.4

p.E386fs

c.1156_1157fs

1 paper

NM_004972.4

p.K385delFs

c.1154delA