Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.R172W

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.R172W
c.514A>T
Surrounding Variants
1 paper
NM_001039.4
p.T176delFs
c.527_528delCA
1 paper
NM_001039.4
p.T176fs
c.526_527fs
1 paper
NM_001039.4
p.G177insFs
c.531dupG
2 papers
NM_001039.4
p.R178W
c.532A>T
1 paper
NM_001039.4
p.R178fs
c.532_533fs
1 paper
NM_001039.4
p.R180Q
c.539G>A
1 paper
NM_001039.4
p.R180R
c.540G>T
8 papers
NM_001039.4
p.G183S
c.547G>A
2 papers
NM_001039.4
p.G183G
c.549C>T
1 paper
NM_001039.4
p.G184V
c.551G>T
4 papers
NM_001039.4
p.I158I
c.474T>C
1 paper
NM_001039.4
p.I186delFs
c.556_557delAT
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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."