Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.N4H

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.N4H
c.10A>C
Surrounding Variants
1 paper
NM_001038.6
p.N4I
c.11A>T
1 paper
NM_001038.6
p.G3R
c.7G>A
5 papers
NM_001038.6
p.M1insFs
c.2dupT
1 paper
NM_001038.6
p.M1K
c.2T>A
1 paper
NM_001038.6
p.M1L
c.1A>T
1 paper
NM_001038.6
p.M1L
c.1A>C
1 paper
NM_001038.6
p.E8insFs
c.22dupG
1 paper
NM_001038.6
p.Q15R
c.44A>G
1 paper
NM_001038.6
p.P18fs
c.52_53fs
1 paper
NM_001038.6
p.P18delFs
c.53delG
1 paper
NM_001038.6
p.P33P
c.99C>T
1 paper
NM_001038.6
p.A36V
c.107C>T
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