Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.P141A

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.P141A
c.421C>G
Surrounding Variants
1 paper
NM_001038.6
p.E142delFs
c.424delC
5 papers
NM_001038.6
p.R139K
c.416G>A
1 paper
NM_001038.6
p.E145Q
c.433G>C
1 paper
NM_001038.6
p.T157delins
c.470_471delinsTG
1 paper
NM_001038.6
p.L161M
c.481C>A
1 paper
NM_001038.6
p.T168N
c.503C>A
1 paper
NM_001038.6
p.T168T
c.504C>G
1 paper
NM_001038.6
p.T169fs
c.505_506fs
1 paper
NM_001038.6
p.T169fs
c.505_506fs
1 paper
NM_001038.6
p.T169delFs
c.505_506delGT
1 paper
NM_001038.6
p.L170V
c.508C>G
5 papers
NM_001038.6
p.G173S
c.517G>A
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."