Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.P595L

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.P595L
c.1784C>T
Surrounding Variants
3 papers
NM_001038.6
p.R597*
c.1789C>T
1 paper
NM_001038.6
p.R597P
c.1790G>C
1 paper
NM_001038.6
p.G598_G599insG
c.1792_1796ins3
1 paper
NM_001038.6
p.R591Q
c.1772G>A
1 paper
NM_001038.6
p.G601V
c.1802G>T
1 paper
NM_001038.6
p.R589Q
c.1766G>A
4 papers
NM_001038.6
p.R587_F588insC
c.1759_1763ins3
1 paper
NM_001038.6
p.T608I
c.1823C>T
1 paper
NM_001038.6
p.L577L
c.1729C>T
1 paper
NM_001038.6
p.L576P
c.1727T>C
1 paper
NM_001038.6
p.P614L
c.1841C>T
6 papers
NM_001038.6
p.V573I
c.1717G>A
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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."