Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.M1808I

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
6 papers
NM_018979.4
p.M1808I
c.5424G>C
NM_014823.3
p.M1561I
c.4683G>C
Surrounding Variants
6 papers
NM_018979.4
p.M1808I
c.5424G>A
NM_014823.3
p.M1561I
c.4683G>A
6 papers
NM_018979.4
p.M1808I
c.5424G>T
NM_014823.3
p.M1561I
c.4683G>T
1 paper
NM_018979.4
p.A1814V
c.5441C>T
2 papers
NM_018979.4
p.Q1799E
c.5395C>G
1 paper
NM_018979.4
p.E1794D
c.5382G>C
1 paper
NM_018979.4
p.P1817L
c.5450C>T
1 paper
NM_018979.4
p.P1823L
c.5468C>T
1 paper
NM_001184985.2
p.L2038R
c.6113T>G
1 paper
NM_018979.4
p.G1765S
c.5293G>A
1 paper
NM_018979.4
p.K1753R
c.5258A>G
1 paper
NM_018979.4
p.S1743P
c.5227T>C
1 paper
NM_018979.4
p.G1732G
c.5196G>A
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