Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.D556_F557del2

SCNN1G

185 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 32–552UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit gamma

HGNC Alias Symbols

ENaCgamma; SCNEG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039.4
p.D556_F557del2
c.1666_1670del6
Surrounding Variants
1 paper
NM_001039.4
p.F557L
c.1671C>A
1 paper
NM_001039.4
p.A562V
c.1685C>T
1 paper
NM_001039.4
p.R564C
c.1690C>T
3 papers
NM_001039.4
p.R564H
c.1691G>A
1 paper
NM_001039.4
p.R564_Q565Fs
c.1691_1693delinsGFs
1 paper
NM_001039.4
p.V546I
c.1636G>A
1 paper
NM_001039.4
p.W566delFs
c.1698delG
5 papers
NM_001039.4
p.Q567*
c.1699C>T
1 paper
NM_001039.4
p.V543fs
c.1627_1628fs
5 papers
NM_001039.4
p.V543delFs
c.1627delG
5 papers
NM_001039.4
p.E571*
c.1711G>T
1 paper
NM_001039.4
p.W572*
c.1715G>A
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