Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.N64D

SCNN1A

245 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 62–572UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit alpha

HGNC Previous Symbol

SCNN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001038.6
p.N64D
c.190A>G
Surrounding Variants
6 papers
NM_001038.6
p.C63*
c.189C>A
4 papers
NM_001038.6
p.F61L
c.183C>G
4 papers
NM_001038.6
p.F61L
c.183C>A
4 papers
NM_001038.6
p.F61L
c.181T>C
1 paper
NM_001038.6
p.E60*
c.178G>T
3 papers
NM_001038.6
p.I68fs
c.202_203fs
1 paper
NM_001038.6
p.I68T
c.203T>C
2 papers
NM_001038.6
p.I68fs
c.202_203fs
2 papers
NM_001038.6
p.I68delFs
c.203_204delGA
5 papers
NM_001038.6
p.H69R
c.206A>G
6 papers
NM_001038.6
p.R56*
c.166C>T
NM_001159576.2
p.R115*
c.343C>T
2 papers
NM_001038.6
p.R73C
c.217C>T
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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."