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.A690P

c.2068G>C

Surrounding Variants

1 paper

NM_006648.4

p.P702L

c.2105C>T

1 paper

NM_006648.4

p.P716S

c.2146C>T

1 paper

NM_006648.4

p.Q730_P731Splc

c.2190+5G>T

1 paper

NM_006648.4

p.P737Q

c.2210C>A

2 papers

NM_006648.4

p.H758N

c.2272C>A

1 paper

NM_006648.4

p.Y762fs

c.2284_2285fs

1 paper

NM_006648.4

p.Y762C

c.2285A>G

1 paper

NM_006648.4

p.A764T

c.2290G>A

1 paper

NM_006648.4

p.P777S

c.2329C>T

1 paper

NM_006648.4

p.V800G

c.2399T>G

1 paper

NM_006648.4

p.V801V

c.2403G>A

1 paper

NM_006648.4

p.P802P

c.2406C>A