Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B

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
1–12 of 262 variants
31 papers
NM_000336.3
p.T594M
c.1781C>T
27 papers
NM_000336.3
p.P616L
c.1847C>T
23 papers
NM_000336.3
p.R563Q
c.1688G>A
22 papers
NM_000336.3
p.R566*
c.1696C>T
19 papers
NM_000336.3
p.G442V
c.1325G>T
12 papers
NM_000336.3
p.P618S
c.1852C>T
12 papers
NM_000336.3
p.P618L
c.1853C>T
11 papers
NM_000336.3
p.S82C
c.245C>G
11 papers
NM_000336.3
p.P617S
c.1849C>T
10 papers
NM_000336.3
p.P617L
c.1850C>T
9 papers
NM_000336.3
p.P616R
c.1847C>G
9 papers
NM_000336.3
p.Y620H
c.1858T>C
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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."