Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.S156S

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
2 papers
NM_001130413.4
p.S156S
c.468G>A
Surrounding Variants
2 papers
NM_001130413.4
p.Q172R
c.515A>G
1 paper
NM_001130413.4
p.R174R
c.522A>G
1 paper
NM_001130413.4
p.A180T
c.538G>A
1 paper
NM_001130413.4
p.Q186_A187Splc
c.559-4A>G
1 paper
NM_001130413.4
p.T191M
c.572C>T
1 paper
NM_001130413.4
p.P198L
c.593C>T
1 paper
NM_001130413.4
p.V214V
c.642G>T
1 paper
NM_001130413.4
p.L216ins3
c.647_648ins9
2 papers
NM_001130413.4
p.R221Q
c.662G>A
1 paper
NM_001130413.4
p.E222K
c.664G>A
1 paper
NM_001130413.4
p.L224_F227del4
c.670_680del12
2 papers
NM_001130413.4
p.G235S
c.703G>A
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