Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.H494H

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.H494H
c.1482C>T
Surrounding Variants
1 paper
NM_001130413.4
p.L486V
c.1456C>G
1 paper
NM_001130413.4
p.P481L
c.1442C>T
1 paper
NM_001130413.4
p.R510W
c.1528C>T
1 paper
NM_001130413.4
p.R510Q
c.1529G>A
1 paper
NM_001130413.4
p.G469S
c.1405G>A
1 paper
NM_001130413.4
p.G467E
c.1400G>A
1 paper
NM_001130413.4
p.G467E
c.1400G>A
1 paper
NM_001130413.4
p.G463G
c.1389C>A
1 paper
NM_001130413.4
p.R461insFs
c.1382_1383insA
1 paper
NM_001130413.4
p.R461fs
c.1381_1382fs
5 papers
NM_001130413.4
p.R461C
c.1381C>T
1 paper
NM_001130413.4
p.D522delFs
c.1564delG
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