Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.R25K

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
2 papers
NM_001130413.4
p.R25K
c.74G>A
Surrounding Variants
1 paper
NM_001130413.4
p.P11P
c.33G>A
1 paper
NM_001130413.4
p.S6L
c.17C>T
1 paper
NM_001130413.4
p.R26_L27insFs
c.78_79ins14
1 paper
NM_001130413.4
p.L43L
c.129G>T
1 paper
NM_001130413.4
p.H47D
c.139C>G
1 paper
NM_001130413.4
p.C51*
c.153C>A
1 paper
NM_001130413.4
p.T52N
c.155C>A
1 paper
NM_001130413.4
p.G57fs
c.169_170fs
1 paper
NM_001130413.4
p.R60S
c.180A>T
1 paper
NM_001130413.4
p.G62V
c.185G>T
1 paper
NM_001130413.4
p.L75fs
c.223_224fs
1 paper
NM_001130413.4
p.L75_C76delFs
c.224_227del4
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