Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.P293S

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.P293S
c.877C>T
Surrounding Variants
1 paper
NM_001130413.4
p.E288_L291del0
c.862_873del12
2 papers
NM_001130413.4
p.R273H
c.818G>A
2 papers
NM_001130413.4
p.T250M
c.749C>T
1 paper
NM_001130413.4
p.K248delFs
c.742_743delAA
1 paper
NM_001130413.4
p.L247F
c.739C>T
1 paper
NM_001130413.4
p.G244R
c.730G>A
1 paper
NM_001130413.4
p.G244R
c.730G>C
1 paper
NM_001130413.4
p.C241Y
c.722G>A
1 paper
NM_001130413.4
p.R238H
c.713G>A
1 paper
NM_001130413.4
p.A236D
c.707C>A
2 papers
NM_001130413.4
p.G235S
c.703G>A
1 paper
NM_001130413.4
p.L224_F227del4
c.670_680del12
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