Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.F349Y

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.F349Y
c.1046T>A
Surrounding Variants
1 paper
NM_001130413.4
p.H345Y
c.1033C>T
1 paper
NM_001130413.4
p.R344H
c.1031G>A
1 paper
NM_001130413.4
p.R344P
c.1031G>C
1 paper
NM_001130413.4
p.H345insFs
c.1033dupC
1 paper
NM_001130413.4
p.R344fs
c.1030_1031fs
1 paper
NM_001130413.4
p.R344delFs
c.1031delG
1 paper
NM_001130413.4
p.A336V
c.1007C>T
2 papers
NM_001130413.4
p.R366W
c.1096C>T
1 paper
NM_001130413.4
p.R366Q
c.1097G>A
1 paper
NM_001130413.4
p.L373V
c.1117C>G
2 papers
NM_001130413.4
p.S325F
c.974C>T
1 paper
NM_001130413.4
p.R320M
c.959G>T
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