Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.V567A

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.V567A
c.1700T>C
Surrounding Variants
1 paper
NM_001038.6
p.E568A
c.1703A>C
1 paper
NM_001038.6
p.E571*
c.1711G>T
1 paper
NM_001038.6
p.E571K
c.1711G>A
1 paper
NM_001038.6
p.S562S
c.1686G>A
9 papers
NM_001038.6
p.S562L
c.1685C>T
13 papers
NM_001038.6
p.S562P
c.1684T>C
6 papers
NM_001038.6
p.V573I
c.1717G>A
1 paper
NM_001038.6
p.G560D
c.1679G>A
5 papers
NM_001038.6
p.G560S
c.1678G>A
1 paper
NM_001038.6
p.L576P
c.1727T>C
1 paper
NM_001038.6
p.L577L
c.1729C>T
1 paper
NM_001038.6
p.L551L
c.1651C>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."