Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.A595fs

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.A595fs
c.1783_1784fs
Surrounding Variants
2 papers
NM_001039.4
p.P594ins1
c.1781_1782insTCC
1 paper
NM_001039.4
p.D597insFs
c.1789_1790dupGA
1 paper
NM_001039.4
p.I598M
c.1794A>G
1 paper
NM_001039.4
p.Q591*
c.1771C>T
1 paper
NM_001039.4
p.G590A
c.1769G>C
1 paper
NM_001039.4
p.G590fs
c.1768_1769fs
4 papers
NM_001039.4
p.G590fs
c.1768_1769fs
2 papers
NM_001039.4
p.G590delFs
c.1769delG
1 paper
NM_001039.4
p.Q589*
c.1765C>T
1 paper
NM_001039.4
p.S587T
c.1760G>C
1 paper
NM_001039.4
p.P603S
c.1807C>T
2 papers
NM_001039.4
p.P603fs
c.1807_1808fs
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