Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.P633L

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
2 papers
NM_001038.6
p.P633L
c.1898C>T
Surrounding Variants
3 papers
NM_001038.6
p.A632T
c.1894G>A
1 paper
NM_001038.6
p.A636insFs
c.1906_1907insC
1 paper
NM_001038.6
p.P642A
c.1924C>G
1 paper
NM_001038.6
p.A643insFs
c.1928_1929insG
4 papers
NM_001038.6
p.C618F
c.1853G>T
1 paper
NM_001038.6
p.P649P
c.1947C>G
1 paper
NM_001038.6
p.P614L
c.1841C>T
1 paper
NM_001038.6
p.T608I
c.1823C>T
1 paper
NM_001038.6
p.A659V
c.1976C>T
1 paper
NM_001038.6
p.A659A
c.1977C>T
1 paper
NM_001038.6
p.A659A
c.1977C>A
1 paper
NM_001038.6
p.S660G
c.1978A>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."