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.P390S

c.1168C>T

Surrounding Variants

1 paper

NM_004972.4

p.P390A

c.1168C>G

1 paper

NM_004972.4

p.P390L

c.1169C>T

1 paper

NM_004972.4

p.A391T

c.1171G>A

1 paper

NM_004972.4

p.A391P

c.1171G>C

19 papers

NM_004972.4

p.V392M

c.1174G>A

1 paper

NM_004972.4

p.A388_P390del0

c.1163_1168del6

1 paper

NM_004972.4

p.V387V

c.1161A>T

29 papers

NM_004972.4

p.L393V

c.1177C>G

2 papers

NM_004972.4

p.V387L

c.1159G>C

2 papers

NM_004972.4

p.V387L

c.1159G>T

1 paper

NM_004972.4

p.V387delFs

c.1159delG

1 paper

NM_004972.4

p.E386fs

c.1156_1157fs