Varaico: Literature-Extracted Genetic Variants

WNK1

951 papers

RefSeq Summary

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride io...

Pfam Domains

Pkinaseaa 221–479UCSCProtein kinase domain

OSR1_Caa 500–563UCSCOxidative-stress-responsive kinase 1 C-terminal domain

CCTL2_WNKaa 870–947UCSCWNK CCTL2 domain

CCTL2_WNKaa 1117–1194UCSCWNK CCTL2 domain

Gene Aliases

HGNC Name

WNK lysine deficient protein kinase 1

HGNC Previous Symbols

PRKWNK1; HSN2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 664 variants

17 papers

NM_018979.4

p.D368A

c.1103A>C

14 papers

NM_018979.4

p.K233M

c.698A>T

8 papers

NM_018979.4

p.T665I

c.1994C>T

7 papers

NM_018979.4

p.L369F

c.1105C>T

7 papers

NM_018979.4

p.K583insFs

c.1748dupA

6 papers

NM_018979.4

p.F379insFs

c.1135_1136insT

6 papers

NM_018979.4

p.D531delFs

c.1591_1592delGA

5 papers

NM_018979.4

p.G213delFs

c.639delA

5 papers

NM_018979.4

p.S306_G307insFs

c.918_919insA

5 papers

NM_018979.4

p.E630K

c.1888G>A

5 papers

NM_018979.4

p.D635N

c.1903G>A

5 papers

NM_018979.4

p.M1808I

c.5424G>A