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.P849T

c.2545C>A

Surrounding Variants

1 paper

NM_006648.4

p.P849A

c.2545C>G

1 paper

NM_006648.4

p.P849S

c.2545C>T

1 paper

NM_006648.4

p.P849delFs

c.2546delC

1 paper

NM_006648.4

p.A845fs

c.2533_2534fs

2 papers

NM_006648.4

p.L843L

c.2529C>T

1 paper

NM_006648.4

p.L854F

c.2562G>C

1 paper

NM_006648.4

p.L854F

c.2562G>T

1 paper

NM_006648.4

p.L856V

c.2566C>G

1 paper

NM_006648.4

p.K860T

c.2579A>C

1 paper

NM_006648.4

p.L861Q

c.2582T>A

1 paper

NM_006648.4

p.P862S

c.2584C>T

1 paper

NM_006648.4

p.H863P

c.2588A>C