Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.L270V

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.L270V
c.808C>G
Surrounding Variants
1 paper
NM_001038.6
p.S269S
c.807C>T
2 papers
NM_001038.6
p.E272fs
c.814_815fs
3 papers
NM_001038.6
p.E272insFs
c.814dupG
1 paper
NM_001038.6
p.E272fs
c.814_815fs
1 paper
NM_001038.6
p.D273D
c.819C>T
1 paper
NM_001038.6
p.G276C
c.826G>T
1 paper
NM_001038.6
p.P264S
c.790C>T
1 paper
NM_001038.6
p.N277D
c.829A>G
1 paper
NM_001038.6
p.A281P
c.841G>C
1 paper
NM_001038.6
p.N258S
c.773A>G
1 paper
NM_001038.6
p.C282Y
c.845G>A
1 paper
NM_001038.6
p.F254L
c.762C>G
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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."