Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.S587T

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.S587T
c.1760G>C
Surrounding Variants
1 paper
NM_001039.4
p.R586C
c.1756C>T
5 papers
NM_001039.4
p.R586fs
c.1756_1757fs
1 paper
NM_001039.4
p.Q589*
c.1765C>T
2 papers
NM_001039.4
p.G590delFs
c.1769delG
1 paper
NM_001039.4
p.G590fs
c.1768_1769fs
4 papers
NM_001039.4
p.G590fs
c.1768_1769fs
2 papers
NM_001039.4
p.R586delFs
c.1756delC
1 paper
NM_001039.4
p.G590A
c.1769G>C
1 paper
NM_001039.4
p.Q591*
c.1771C>T
2 papers
NM_001039.4
p.E583_P585delFs
c.1749_1753del5
3 papers
NM_001039.4
p.E583fs
c.1747_1748fs
2 papers
NM_001039.4
p.P594ins1
c.1781_1782insTCC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."