Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.E44fs

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.E44fs
c.130_131fs
Surrounding Variants
1 paper
NM_001038.6
p.E44delFs
c.131_132delCT
1 paper
NM_001038.6
p.A47V
c.140C>T
1 paper
NM_001038.6
p.E50fs
c.148_149fs
1 paper
NM_001038.6
p.P38S
c.112C>T
1 paper
NM_001038.6
p.E50delFs
c.148delC
1 paper
NM_001038.6
p.A36V
c.107C>T
1 paper
NM_001038.6
p.P33P
c.99C>T
6 papers
NM_001038.6
p.R56*
c.166C>T
NM_001159576.2
p.R115*
c.343C>T
1 paper
NM_001038.6
p.E60*
c.178G>T
4 papers
NM_001038.6
p.F61L
c.181T>C
4 papers
NM_001038.6
p.F61L
c.183C>G
4 papers
NM_001038.6
p.F61L
c.183C>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."