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.A915D

c.2744C>A

Surrounding Variants

1 paper

NM_006648.4

p.A914V

c.2741C>T

1 paper

NM_006648.4

p.Y912*

c.2736C>A

1 paper

NM_006648.4

p.Y912*

c.2736C>G

1 paper

NM_006648.4

p.A920T

c.2758G>A

1 paper

NM_006648.4

p.D923D

c.2769C>T

1 paper

NM_006648.4

p.V924I

c.2770G>A

1 paper

NM_006648.4

p.T931M

c.2792C>T

1 paper

NM_006648.4

p.A896S

c.2686G>T

2 papers

NM_006648.4

p.A890T

c.2668G>A

1 paper

NM_006648.4

p.P946S

c.2836C>T

1 paper

NM_006648.4

p.Q953_P958del0

c.2857_2874del18

1 paper

NM_006648.4

p.Q953P

c.2858A>C