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.V1673I

c.5017G>A

Surrounding Variants

1 paper

NM_006648.4

p.A1664P

c.4990G>C

1 paper

NM_006648.4

p.S1652G

c.4954A>G

1 paper

NM_006648.4

p.R1685C

c.5053C>T

1 paper

NM_006648.4

p.S1752delFs

c.5254delA

1 paper

NM_006648.4

p.S1752fs

c.5254_5255fs

1 paper

NM_006648.4

p.S1761fs

c.5281_5282fs

1 paper

NM_006648.4

p.S1761delFs

c.5282delC

1 paper

NM_006648.4

p.D1772N

c.5314G>A

1 paper

NM_006648.4

p.L1786R

c.5357T>G

1 paper

NM_006648.4

p.T1793M

c.5378C>T

3 papers

NM_006648.4

p.V1801G

c.5402T>G

1 paper

NM_006648.4

p.Q1821R

c.5462A>G