Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.L609F

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
3 papers
NM_001039.4
p.L609F
c.1827G>T
Surrounding Variants
3 papers
NM_001039.4
p.L609F
c.1827G>C
1 paper
NM_001039.4
p.A608V
c.1823C>T
1 paper
NM_001039.4
p.P613delFs
c.1838delC
1 paper
NM_001039.4
p.P613fs
c.1837_1838fs
1 paper
NM_001039.4
p.A614S
c.1840G>T
1 paper
NM_001039.4
p.P603S
c.1807C>T
2 papers
NM_001039.4
p.P603fs
c.1807_1808fs
1 paper
NM_001039.4
p.T617I
c.1850C>T
1 paper
NM_001039.4
p.Q618*
c.1852C>T
1 paper
NM_001039.4
p.I598M
c.1794A>G
1 paper
NM_001039.4
p.D597insFs
c.1789_1790dupGA
2 papers
NM_001039.4
p.P623L
c.1868C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."