Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S198R

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
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.S198R
c.592A>C
Surrounding Variants
1 paper
NM_018979.4
p.Q199P
c.596A>C
1 paper
NM_018979.4
p.P193P
c.579A>T
1 paper
NM_018979.4
p.E192E
c.576G>A
2 papers
NM_018979.4
p.E192K
c.574G>A
1 paper
NM_018979.4
p.I204I
c.612C>A
2 papers
NM_018979.4
p.S189R
c.567C>A
2 papers
NM_018979.4
p.S189R
c.567C>G
2 papers
NM_018979.4
p.S189R
c.565A>C
1 paper
NM_018979.4
p.L207delFs
c.620_621delTG
1 paper
NM_018979.4
p.G187D
c.560G>A
1 paper
NM_018979.4
p.T209T
c.627C>A
1 paper
NM_018979.4
p.G186A
c.557G>C
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