Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.D647Y

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.D647Y
c.1939G>T
Surrounding Variants
1 paper
NM_001039.4
p.M645I
c.1935G>A
1 paper
NM_001039.4
p.M645I
c.1935G>C
1 paper
NM_001039.4
p.M645I
c.1935G>T
1 paper
NM_001039.4
p.L649L
c.1947C>G
1 paper
NM_001039.4
p.T643insFs
c.1928_1929insG
1 paper
NM_001039.4
p.D642_T643insFs
c.1926_1927insT
1 paper
NM_001039.4
p.T641P
c.1921A>C
1 paper
NM_001039.4
p.N638_Q639delFs
c.1912_1915del4
1 paper
NM_001039.4
p.F636insFs
c.1906_1907insC
1 paper
NM_001039.4
p.A635V
c.1904C>T
1 paper
NM_001039.4
p.E633K
c.1897G>A
3 papers
NM_001039.4
p.R631H
c.1892G>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."