Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.S697R

SCNN1D

103 papers

Pfam Domains

ASCaa 227–713UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit delta

HGNC Alias Symbols

ENaCdelta; dNaCh

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130413.4
p.S697R
c.2089A>C
Surrounding Variants
1 paper
NM_001130413.4
p.S697R
c.2091C>A
1 paper
NM_001130413.4
p.S697R
c.2091C>G
1 paper
NM_001130413.4
p.L698Q
c.2093T>A
1 paper
NM_001130413.4
p.S690L
c.2069C>T
1 paper
NM_001130413.4
p.L707P
c.2120T>C
4 papers
NM_001130413.4
p.G726S
c.2176G>A
1 paper
NM_001130413.4
p.R730C
c.2188C>T
1 paper
NM_001130413.4
p.A739G
c.2216C>G
1 paper
NM_001130413.4
p.A742V
c.2225C>T
1 paper
NM_001130413.4
p.V682M
c.2044G>A
1 paper
NM_001130413.4
p.P756P
c.2268C>T
1 paper
NM_001130413.4
p.I667N
c.2000T>A
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