Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.K625R

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.K625R
c.1874A>G
Surrounding Variants
1 paper
NM_001130413.4
p.G629R
c.1885G>A
1 paper
NM_001130413.4
p.G629R
c.1885G>C
1 paper
NM_001130413.4
p.A636T
c.1906G>A
1 paper
NM_001130413.4
p.R620Splc
c.1859+7C>T
1 paper
NM_001130413.4
p.C615C
c.1845C>T
1 paper
NM_001130413.4
p.R614R
c.1842C>A
1 paper
NM_001130413.4
p.R608Q
c.1823G>A
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.A639_G640Splc
c.1918-28G>A
1 paper
NM_001130413.4
p.G594Splc
c.1780+2T>A
1 paper
NM_001130413.4
p.G647_E648ins9
c.1939_1943ins27
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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."