Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.G594Splc

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.G594Splc
c.1780+2T>A
Surrounding Variants
1 paper
NM_001130413.4
p.R589Q
c.1766G>A
1 paper
NM_001130413.4
p.R589W
c.1765C>T
1 paper
NM_001130413.4
p.G581R
c.1741G>A
1 paper
NM_001130413.4
p.G581R
c.1741G>C
2 papers
NM_001130413.4
p.P579L
c.1736C>T
1 paper
NM_001130413.4
p.V566L
c.1696G>C
1 paper
NM_001130413.4
p.V566L
c.1696G>T
1 paper
NM_001130413.4
p.D603E
c.1809C>A
1 paper
NM_001130413.4
p.D603E
c.1809C>G
1 paper
NM_001130413.4
p.R608Q
c.1823G>A
1 paper
NM_001130413.4
p.R614R
c.1842C>A
1 paper
NM_001130413.4
p.C615C
c.1845C>T
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