Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.S82S

SCNN1B

281 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 29–349UCSCAmiloride-sensitive sodium channel
ASCaa 346–507UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit beta

HGNC Alias Symbol

ENaCbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000336.3
p.S82S
c.246C>G
Surrounding Variants
11 papers
NM_000336.3
p.S82C
c.245C>G
1 paper
NM_000336.3
p.V85V
c.255A>C
1 paper
NM_000336.3
p.G86S
c.256G>A
1 paper
NM_000336.3
p.M90V
c.268A>G
1 paper
NM_000336.3
p.F92S
c.275T>C
3 papers
NM_000336.3
p.P93P
c.279T>C
1 paper
NM_000336.3
p.A94T
c.280G>A
1 paper
NM_000336.3
p.S101N
c.302G>A
1 paper
NM_000336.3
p.P102L
c.305C>T
1 paper
NM_000336.3
p.A61A
c.183C>A
1 paper
NM_000336.3
p.K48E
c.142A>G
1 paper
NM_000336.3
p.K47R
c.140A>G
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."