Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.Y129Y

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
4 papers
NM_001039.4
p.Y129Y
c.387T>C
Surrounding Variants
1 paper
NM_001039.4
p.R137H
c.410G>A
1 paper
NM_001039.4
p.R138*
c.412C>T
2 papers
NM_001039.4
p.S145S
c.435C>T
1 paper
NM_001039.4
p.V146I
c.436G>A
1 paper
NM_001039.4
p.V110L
c.328G>C
1 paper
NM_001039.4
p.T109S
c.326C>G
1 paper
NM_001039.4
p.T109S
c.325A>T
5 papers
NM_001039.4
p.K106Splc
c.318-1G>A
1 paper
NM_001039.4
p.H156Q
c.468C>A
2 papers
NM_001039.4
p.R157Q
c.470G>A
1 paper
NM_001039.4
p.R157delins
c.470_471delinsTG
4 papers
NM_001039.4
p.I158I
c.474T>C
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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."