Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.E544Q

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
3 papers
NM_001130413.4
p.E544Q
c.1630G>C
Surrounding Variants
1 paper
NM_001130413.4
p.E542K
c.1624G>A
4 papers
NM_001130413.4
p.V541L
c.1621G>C
4 papers
NM_001130413.4
p.V541L
c.1621G>T
1 paper
NM_001130413.4
p.G540A
c.1619G>C
1 paper
NM_001130413.4
p.E539K
c.1615G>A
1 paper
NM_001130413.4
p.T552fs
c.1654_1655fs
1 paper
NM_001130413.4
p.R553G
c.1657A>G
1 paper
NM_001130413.4
p.H533R
c.1598A>G
1 paper
NM_001130413.4
p.R526W
c.1576C>T
1 paper
NM_001130413.4
p.E523D
c.1569G>C
1 paper
NM_001130413.4
p.E523D
c.1569G>T
1 paper
NM_001130413.4
p.D522delFs
c.1564delG
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