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

Selected Variant

1 paper

NM_018979.4

p.L564F

c.1692A>T

Surrounding Variants

1 paper

NM_018979.4

p.L564F

c.1692A>C

1 paper

NM_018979.4

p.D560Y

c.1678G>T

1 paper

NM_018979.4

p.K559I

c.1676A>T

1 paper

NM_018979.4

p.R572R

c.1716G>A

1 paper

NM_018979.4

p.Q573H

c.1719G>T

1 paper

NM_018979.4

p.M554T

c.1661T>C

1 paper

NM_018979.4

p.H551H

c.1653C>T

7 papers

NM_018979.4

p.K583insFs

c.1748dupA

3 papers

NM_018979.4

p.E580fs

c.1738_1739fs

2 papers

NM_018979.4

p.E580delFs

c.1739delA

1 paper

NM_018979.4

p.K581R

c.1742A>G

1 paper

NM_018979.4

p.K583fs

c.1747_1748fs