Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D

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
1–12 of 138 variants
5 papers
NM_001130413.4
p.R461C
c.1381C>T
4 papers
NM_001130413.4
p.V541L
c.1621G>C
4 papers
NM_001130413.4
p.V541L
c.1621G>T
4 papers
NM_001130413.4
p.G726S
c.2176G>A
4 papers
NM_001130413.4
p.G770R
c.2308G>A
4 papers
NM_001130413.4
p.G770R
c.2308G>C
3 papers
NM_001130413.4
p.Y383*
c.1149C>A
3 papers
NM_001130413.4
p.Y383*
c.1149C>G
3 papers
NM_001130413.4
p.E544Q
c.1630G>C
2 papers
NM_001130413.4
p.R25K
c.74G>A
2 papers
NM_001130413.4
p.P79L
c.236C>T
2 papers
NM_001130413.4
p.S156S
c.468G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."