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.P1373L

c.4118C>T

Surrounding Variants

1 paper

NM_006648.4

p.N1375K

c.4125C>A

1 paper

NM_006648.4

p.N1375K

c.4125C>G

4 papers

NM_006648.4

p.S1355L

c.4064C>T

1 paper

NM_006648.4

p.D1397_A1402del0

c.4190_4204del15

1 paper

NM_006648.4

p.V1446_Q1447delFs

c.4338_4341del4

1 paper

NM_006648.4

p.A1492delFs

c.4474delG

1 paper

NM_006648.4

p.A1492fs

c.4474_4475fs

1 paper

NM_006648.4

p.G1494del1

c.4480_4481delGGT

1 paper

NM_006648.4

p.G1494delFs

c.4481_4482delGT

1 paper

NM_006648.4

p.A1510S

c.4528G>T

1 paper

NM_006648.4

p.I1549T

c.4646T>C

1 paper

NM_006648.4

p.G1590fs

c.4768_4769fs