Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R251T

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_001159576.2
p.R251T
c.752G>C
Surrounding Variants
2 papers
NM_001038.6
p.R192delFs
c.574delT
1 paper
NM_001038.6
p.R192fs
c.574_575fs
5 papers
NM_001038.6
p.P196insFs
c.587dupC
4 papers
NM_001038.6
p.P197fs
c.589_590fs
1 paper
NM_001038.6
p.P197S
c.589C>T
1 paper
NM_001038.6
p.P197A
c.589C>G
1 paper
NM_001038.6
p.P197L
c.590C>T
1 paper
NM_001038.6
p.P197fs
c.589_590fs
1 paper
NM_001038.6
p.H198Y
c.592C>T
1 paper
NM_001038.6
p.H198N
c.592C>A
4 papers
NM_001038.6
p.A200fs
c.598_599fs
4 papers
NM_001038.6
p.A200insFs
c.598dupG
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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."