Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.G327C

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
9 papers
NM_001038.6
p.G327C
c.979G>T
Surrounding Variants
1 paper
NM_001038.6
p.R333C
c.997C>T
13 papers
NM_001038.6
p.A334T
c.1000G>A
1 paper
NM_001038.6
p.L328_R333delFs
c.982_998del17
1 paper
NM_001038.6
p.E335K
c.1003G>A
1 paper
NM_001038.6
p.T347delFs
c.1041delA
1 paper
NM_001038.6
p.R350W
c.1048C>T
1 paper
NM_001038.6
p.R350G
c.1048C>G
1 paper
NM_001038.6
p.R350L
c.1049G>T
4 papers
NM_001038.6
p.R350Q
c.1049G>A
1 paper
NM_001038.6
p.V351A
c.1052T>C
1 paper
NM_001038.6
p.H354R
c.1061A>G
2 papers
NM_001038.6
p.G355R
c.1063G>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."