Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.Y112N

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.Y112N
c.334T>A
Surrounding Variants
1 paper
NM_001038.6
p.Y112*
c.336C>G
4 papers
NM_001038.6
p.V114I
c.340G>A
1 paper
NM_001038.6
p.S115Fs
c.343delinsTTFs
1 paper
NM_001038.6
p.S115N
c.344G>A
1 paper
NM_001038.6
p.G107R
c.319G>C
1 paper
NM_001038.6
p.G107R
c.319G>A
1 paper
NM_001038.6
p.F102Y
c.305T>A
5 papers
NM_001038.6
p.Q101K
c.301C>A
1 paper
NM_001038.6
p.F127_P128Fs
c.380_382delinsCFs
2 papers
NM_001038.6
p.A129T
c.385G>A
1 paper
NM_001038.6
p.T94A
c.280A>G
1 paper
NM_001038.6
p.L92L
c.276C>T
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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."