Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.Q499_E500Splc

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.Q499_E500Splc
c.1497+56C>G
Surrounding Variants
1 paper
NM_001038.6
p.Q499_E500Splc
c.1497+6G>C
1 paper
NM_001038.6
p.Q499H
c.1497G>C
2 papers
NM_001038.6
p.Q499R
c.1496A>G
1 paper
NM_001038.6
p.S495W
c.1484C>G
1 paper
NM_001038.6
p.P494L
c.1481C>T
37 papers
NM_001038.6
p.W493R
c.1477T>C
NM_001159576.2
p.W552R
c.1654T>C
36 papers
NM_001038.6
p.W493R
c.1477T>A
NM_001159576.2
p.W552R
c.1654T>A
1 paper
NM_001038.6
p.R492Q
c.1475G>A
6 papers
NM_001038.6
p.R492*
c.1474C>T
1 paper
NM_001038.6
p.Y490insFs
c.1470dupC
2 papers
NM_001038.6
p.Q485*
c.1453C>T
NM_001159575.2
p.Q508*
c.1522C>T
4 papers
NM_001038.6
p.S483delFs
c.1449delG
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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."