Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.F531L

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.F531L
c.1591T>C
Surrounding Variants
1 paper
NM_001039.4
p.N530K
c.1590C>A
1 paper
NM_001039.4
p.N530K
c.1590C>G
11 papers
NM_001039.4
p.N530S
c.1589A>G
1 paper
NM_001039.4
p.F531L
c.1593C>A
1 paper
NM_001039.4
p.F531L
c.1593C>G
1 paper
NM_001039.4
p.G532S
c.1594G>A
1 paper
NM_001039.4
p.L528L
c.1584G>A
1 paper
NM_001039.4
p.L528del1
c.1582_1584delCTG
1 paper
NM_001039.4
p.E525E
c.1575G>A
1 paper
NM_001039.4
p.L537L
c.1609C>T
3 papers
NM_001039.4
p.S523_I524Splc
c.1570-1G>A
5 papers
NM_001039.4
p.V543delFs
c.1627delG
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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."