Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.E530A

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.E530A
c.1589A>C
Surrounding Variants
1 paper
NM_001038.6
p.E530G
c.1589A>G
4 papers
NM_001038.6
p.F528del1
c.1582_1584delGAA
1 paper
NM_001159575.2
p.V547A
c.1640T>C
1 paper
NM_001038.6
p.E538Q
c.1612G>C
1 paper
NM_001038.6
p.A522T
c.1564G>A
1 paper
NM_001038.6
p.G520A
c.1559G>C
1 paper
NM_001038.6
p.S541A
c.1621T>G
1 paper
NM_001038.6
p.N515N
c.1545C>T
1 paper
NM_001038.6
p.V514I
c.1540G>A
1 paper
NM_001038.6
p.N511S
c.1532A>G
14 papers
NM_001038.6
p.R508*
c.1522C>T
NM_001159576.2
p.R567*
c.1699C>T
1 paper
NM_001038.6
p.S507L
c.1520C>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."