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

1–12 of 278 variants

4 papers

NM_006648.4

p.T676M

c.2027C>T

4 papers

NM_006648.4

p.S1355L

c.4064C>T

3 papers

NM_006648.4

p.V1801G

c.5402T>G

2 papers

NM_006648.4

p.G12C

c.34G>T

2 papers

NM_006648.4

p.G12V

c.35G>T

2 papers

NM_006648.4

p.R169H

c.506G>A

2 papers

NM_006648.4

p.G585E

c.1754G>A

2 papers

NM_006648.4

p.H758N

c.2272C>A

2 papers

NM_006648.4

p.V828M

c.2482G>A

2 papers

NM_006648.4

p.L843L

c.2529C>T

2 papers

NM_006648.4

p.P849T

c.2545C>A

2 papers

NM_006648.4

p.A890T

c.2668G>A