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.L609delFs

c.1826delT

Surrounding Variants

22 papers

NM_004972.4

p.H608N

c.1822C>A

9 papers

NM_004972.4

p.H608Y

c.1822C>T

26 papers

NM_004972.4

p.K607N

c.1821G>C

26 papers

NM_004972.4

p.K607N

c.1821G>T

1 paper

NM_004972.4

p.L609fs

c.1825_1826fs

1 paper

NM_004972.4

p.K607R

c.1820A>G

2 papers

NM_004972.4

p.L609S

c.1826T>C

1 paper

NM_004972.4

p.K607Q

c.1819A>C

1 paper

NM_004972.4

p.K607E

c.1819A>G

2 papers

NM_004972.4

p.K607*

c.1819A>T

1 paper

NM_004972.4

p.L609F

c.1827G>C

1 paper

NM_004972.4

p.L609F

c.1827G>T