Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.A1384V

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.A1384V
c.4151C>T
Surrounding Variants
1 paper
NM_018979.4
p.E1381*
c.4141G>T
1 paper
NM_018979.4
p.S1373fs
c.4117_4118fs
1 paper
NM_018979.4
p.S1406P
c.4216T>C
1 paper
NM_018979.4
p.S1423S
c.4269A>G
1 paper
NM_018979.4
p.I1424M
c.4272A>G
1 paper
NM_018979.4
p.S1428F
c.4283C>T
1 paper
NM_213655.5
p.F1591_L1592del2
c.4771_4775del6
1 paper
NM_018979.4
p.Q1432R
c.4295A>G
1 paper
NM_018979.4
p.P1334L
c.4001C>T
1 paper
NM_001184985.2
p.P1591_T1592del2
c.4771_4775del6
1 paper
NM_018979.4
p.I1440I
c.4320C>T
1 paper
NM_018979.4
p.T1452A
c.4354A>G
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