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

148 papers

NM_004972.4

p.R683G

c.2047A>G

Surrounding Variants

1 paper

NM_004972.4

p.R683_E684del1

c.2048_2050delGAG

1 paper

NM_004972.4

p.I682I

c.2046C>T

6 papers

NM_004972.4

p.R683K

c.2048G>A

14 papers

NM_004972.4

p.R683T

c.2048G>C

2 papers

NM_004972.4

p.R683I

c.2048G>T

85 papers

NM_004972.4

p.R683S

c.2049A>C

85 papers

NM_004972.4

p.R683S

c.2049A>T

2 papers

NM_004972.4

p.I682T

c.2045T>C

1 paper

NM_004972.4

p.I682S

c.2045T>G

1 paper

NM_004972.4

p.I682delins

c.2045_2046delinsAG

1 paper

NM_004972.4

p.I682ins5

c.2044_2045ins15

1 paper

NM_004972.4

p.I682L

c.2044A>C