Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.C581R

SCNN1G

185 papers

RefSeq Summary

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha...

Pfam Domains

ASCaa 32–552UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit gamma

HGNC Alias Symbols

ENaCgamma; SCNEG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039.4
p.C581R
c.1741T>C
Surrounding Variants
3 papers
NM_001039.4
p.E583fs
c.1747_1748fs
2 papers
NM_001039.4
p.E583_P585delFs
c.1749_1753del5
1 paper
NM_001039.4
p.A578V
c.1733C>T
2 papers
NM_001039.4
p.R586delFs
c.1756delC
1 paper
NM_001039.4
p.Q577*
c.1729C>T
1 paper
NM_001039.4
p.R586C
c.1756C>T
5 papers
NM_001039.4
p.R586fs
c.1756_1757fs
2 papers
NM_001039.4
p.W575*
c.1725G>A
4 papers
NM_001039.4
p.W575*
c.1724G>A
1 paper
NM_001039.4
p.S587T
c.1760G>C
2 papers
NM_001039.4
p.A574delFs
c.1721delC
3 papers
NM_001039.4
p.W573*
c.1719G>A
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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."