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.P993P

c.2979C>T

Surrounding Variants

1 paper

NM_006648.4

p.P994P

c.2982G>A

1 paper

NM_006648.4

p.M985T

c.2954T>C

1 paper

NM_006648.4

p.L1005F

c.3013C>T

1 paper

NM_006648.4

p.P1010L

c.3029C>T

1 paper

NM_006648.4

p.R974Q

c.2921G>A

2 papers

NM_006648.4

p.R974W

c.2920C>T

1 paper

NM_006648.4

p.T973_R974delins

c.2919_2921delinsGCT

1 paper

NM_006648.4

p.T973K

c.2918C>A

1 paper

NM_006648.4

p.P963L

c.2888C>T

1 paper

NM_006648.4

p.Q953H

c.2859A>C

1 paper

NM_006648.4

p.Q953H

c.2859A>T

1 paper

NM_006648.4

p.Q953P

c.2858A>C