Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.T617I

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.T617I
c.1850C>T
Surrounding Variants
1 paper
NM_001039.4
p.Q618*
c.1852C>T
1 paper
NM_001039.4
p.A614S
c.1840G>T
1 paper
NM_001039.4
p.P613fs
c.1837_1838fs
1 paper
NM_001039.4
p.P613delFs
c.1838delC
2 papers
NM_001039.4
p.P623L
c.1868C>T
1 paper
NM_001039.4
p.P623Fs
c.1869delinsTTFs
3 papers
NM_001039.4
p.L609F
c.1827G>C
3 papers
NM_001039.4
p.L609F
c.1827G>T
4 papers
NM_001039.4
p.P625R
c.1874C>G
3 papers
NM_001039.4
p.P625L
c.1874C>T
1 paper
NM_001039.4
p.A608V
c.1823C>T
1 paper
NM_001039.4
p.Y627C
c.1880A>G
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