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

6 papers

NM_004972.4

p.F547_N548Splc

c.1641+6T>C

Surrounding Variants

1 paper

NM_004972.4

p.F547_N548Splc

c.1641+10T>A

2 papers

NM_004972.4

p.F547_N548Splc

c.1641+2T>G

1 paper

NM_004972.4

p.F547_N548Splc

c.1641+1G>T

12 papers

NM_004972.4

p.F547L

c.1641T>A

12 papers

NM_004972.4

p.F547L

c.1641T>G

12 papers

NM_004972.4

p.F547L

c.1639T>C

2 papers

NM_004972.4

p.F547V

c.1639T>G

1 paper

NM_004972.4

p.I546_F547ins11

c.1636_1640ins33

1 paper

NM_004972.4

p.L545F

c.1635G>C

1 paper

NM_004972.4

p.L545F

c.1635G>T

3 papers

NM_004972.4

p.L545S

c.1634T>C

1 paper

NM_004972.4

p.L545W

c.1634T>G