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.R58H

c.173G>A

Surrounding Variants

1 paper

NM_018979.4

p.R57H

c.170G>A

1 paper

NM_018979.4

p.R57C

c.169C>T

2 papers

NM_018979.4

p.T60A

c.178A>G

1 paper

NM_018979.4

p.R55G

c.163A>G

2 papers

NM_018979.4

p.D62N

c.184G>A

1 paper

NM_018979.4

p.K63R

c.188A>G

1 paper

NM_018979.4

p.D64D

c.192C>T

1 paper

NM_018979.4

p.E52K

c.154G>A

1 paper

NM_018979.4

p.S65T

c.194G>C

2 papers

NM_018979.4

p.R66H

c.197G>A

1 paper

NM_018979.4

p.R66L

c.197G>T

1 paper

NM_018979.4

p.G67R

c.199G>A