Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S29A

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.S29A
c.85T>G
Surrounding Variants
1 paper
NM_018979.4
p.S29T
c.85T>A
1 paper
NM_018979.4
p.S30R
c.88A>C
1 paper
NM_018979.4
p.S30R
c.90C>A
1 paper
NM_018979.4
p.S30R
c.90C>G
1 paper
NM_018979.4
p.N27insFs
c.80dupA
1 paper
NM_018979.4
p.P25L
c.74C>T
1 paper
NM_018979.4
p.S33A
c.97T>G
1 paper
NM_018979.4
p.S33Y
c.98C>A
1 paper
NM_018979.4
p.A24G
c.71C>G
1 paper
NM_018979.4
p.A24T
c.70G>A
1 paper
NM_018979.4
p.P23H
c.68C>A
1 paper
NM_018979.4
p.A22A
c.66T>G
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