Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S158C

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.S158C
c.472A>T
Surrounding Variants
1 paper
NM_018979.4
p.P157P
c.471C>T
1 paper
NM_018979.4
p.P157H
c.470C>A
1 paper
NM_018979.4
p.P157delins
c.470_471delinsTG
1 paper
NM_018979.4
p.T155S
c.463A>T
1 paper
NM_018979.4
p.S154P
c.460T>C
1 paper
NM_018979.4
p.P153P
c.459C>T
1 paper
NM_018979.4
p.D163V
c.488A>T
1 paper
NM_018979.4
p.G150G
c.450C>T
4 papers
NM_018979.4
p.A149V
c.446C>T
1 paper
NM_018979.4
p.Q168*
c.502C>T
1 paper
NM_018979.4
p.P169S
c.505C>T
1 paper
NM_018979.4
p.L171F
c.511C>T
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