Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R181W

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
6 papers
NM_001038.6
p.R181W
c.541C>T
Surrounding Variants
1 paper
NM_001038.6
p.L180_R181delins
c.540_541delinsTT
2 papers
NM_001038.6
p.L180L
c.540G>T
1 paper
NM_001038.6
p.R175H
c.524G>A
5 papers
NM_001038.6
p.G173S
c.517G>A
1 paper
NM_001038.6
p.R192fs
c.574_575fs
1 paper
NM_001038.6
p.L170V
c.508C>G
1 paper
NM_001038.6
p.T169fs
c.505_506fs
1 paper
NM_001038.6
p.T169delFs
c.505_506delGT
1 paper
NM_001159576.2
p.R251T
c.752G>C
2 papers
NM_001038.6
p.R192delFs
c.574delT
1 paper
NM_001038.6
p.T169fs
c.505_506fs
1 paper
NM_001038.6
p.T168T
c.504C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."