Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.I226V

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.I226V
c.676A>G
Surrounding Variants
1 paper
NM_001039.4
p.K231K
c.693G>A
1 paper
NM_001039.4
p.T218P
c.652A>C
1 paper
NM_001039.4
p.T216insFs
c.647_648insA
1 paper
NM_001039.4
p.D213G
c.638A>G
1 paper
NM_001039.4
p.D213V
c.638A>T
2 papers
NM_001039.4
p.S212S
c.636C>T
1 paper
NM_001039.4
p.L243delFs
c.729delG
1 paper
NM_001039.4
p.M249T
c.746T>C
1 paper
NM_001039.4
p.E254K
c.760G>A
4 papers
NM_001039.4
p.T259N
c.776C>A
1 paper
NM_001039.4
p.G264A
c.791G>C
2 papers
NM_001039.4
p.F275F
c.825C>T
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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."