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

2 papers

NM_006648.4

p.R169H

c.506G>A

Surrounding Variants

1 paper

NM_006648.4

p.R167H

c.500G>A

1 paper

NM_006648.4

p.E154D

c.462G>C

1 paper

NM_006648.4

p.E154D

c.462G>T

1 paper

NM_006648.4

p.A187T

c.559G>A

1 paper

NM_006648.4

p.A147S

c.439G>T

1 paper

NM_006648.4

p.R193P

c.578G>C

1 paper

NM_006648.4

p.K207M

c.620A>T

1 paper

NM_006648.4

p.T208M

c.623C>T

1 paper

NM_006648.4

p.K211*

c.631A>T

1 paper

NM_006648.4

p.G120G

c.360C>T

1 paper

NM_006648.4

p.G106_A107insG

c.316_320ins3

1 paper

NM_006648.4

p.A89A

c.267C>T