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.S904S

c.2712C>T

Surrounding Variants

1 paper

NM_004972.4

p.S904F

c.2711C>T

1 paper

NM_004972.4

p.S904T

c.2710T>A

1 paper

NM_004972.4

p.L905P

c.2714T>C

1 paper

NM_004972.4

p.S904fs

c.2710_2711fs

1 paper

NM_004972.4

p.S904insFs

c.2710_2711ins8

1 paper

NM_004972.4

p.H907N

c.2719C>A

1 paper

NM_004972.4

p.L902Q

c.2705T>A

1 paper

NM_004972.4

p.L902M

c.2704C>A

1 paper

NM_004972.4

p.L902fs

c.2704_2705fs

1 paper

NM_004972.4

p.D908N

c.2722G>A

1 paper

NM_004972.4

p.I901_L902delFs

c.2703_2706del4

1 paper

NM_004972.4

p.E900A

c.2699A>C