Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S2011Y

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.S2011Y
c.6032C>A
Surrounding Variants
1 paper
NM_001184985.2
p.P2254L
c.6761C>T
1 paper
NM_018979.4
p.N2045T
c.6134A>C
1 paper
NM_018979.4
p.S2047N
c.6140G>A
1 paper
NM_213655.5
p.T2220_D2221insC
c.6658_6662ins3
1 paper
NM_018979.4
p.K1966E
c.5896A>G
2 papers
NM_018979.4
p.R1957C
c.5869C>T
1 paper
NM_018979.4
p.D2069N
c.6205G>A
1 paper
NM_018979.4
p.N1953_K1954insA
c.5857_5861ins3
1 paper
NM_018979.4
p.T1951A
c.5851A>G
1 paper
NM_018979.4
p.T1950I
c.5849C>T
5 papers
NM_018979.4
p.R1945C
c.5833C>T
NM_001184985.2
p.R2205C
c.6613C>T
1 paper
NM_018979.4
p.G1944_V1955delFs
c.5832_5865del34
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