Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A

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
1–12 of 276 variants
36 papers
NM_001038.6
p.W493R
c.1477T>C
35 papers
NM_001038.6
p.W493R
c.1477T>A
27 papers
NM_001038.6
p.T663A
c.1987A>G
13 papers
NM_001038.6
p.A334T
c.1000G>A
13 papers
NM_001038.6
p.R508*
c.1522C>T
13 papers
NM_001038.6
p.S562P
c.1684T>C
12 papers
NM_001038.6
p.C479R
c.1435T>C
9 papers
NM_001038.6
p.G327C
c.979G>T
9 papers
NM_001038.6
p.S562L
c.1685C>T
7 papers
NM_001038.6
p.S243P
c.727T>C
6 papers
NM_001038.6
p.C63*
c.189C>A
6 papers
NM_001038.6
p.R181W
c.541C>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."