Varaico: Literature-Extracted Genetic Variants

WNK2

176 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostas...

Pfam Domains

Pkinaseaa 195–453UCSCProtein kinase domain

OSR1_Caa 474–537UCSCOxidative-stress-responsive kinase 1 C-terminal domain

CCTL2_WNKaa 1186–1263UCSCWNK CCTL2 domain

Gene Aliases

HGNC Name

WNK lysine deficient protein kinase 2

HGNC Previous Symbols

SDCCAG43; PRKWNK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006648.4

p.G809R

c.2425G>A

Surrounding Variants

1 paper

NM_006648.4

p.G809R

c.2425G>C

1 paper

NM_006648.4

p.T805T

c.2415G>T

1 paper

NM_006648.4

p.T805M

c.2414C>T

1 paper

NM_006648.4

p.P802P

c.2406C>A

1 paper

NM_006648.4

p.A816T

c.2446G>A

1 paper

NM_006648.4

p.V801V

c.2403G>A

1 paper

NM_006648.4

p.V800G

c.2399T>G

1 paper

NM_006648.4

p.P818T

c.2452C>A

1 paper

NM_006648.4

p.P821P

c.2463G>A

2 papers

NM_006648.4

p.V828M

c.2482G>A

2 papers

NM_006648.4

p.L843L

c.2529C>T

1 paper

NM_006648.4

p.A845fs

c.2533_2534fs