Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P618insFs

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
8 papers
NM_000336.3
p.P618insFs
c.1854dupC
Surrounding Variants
2 papers
NM_000336.3
p.P616_P617insFs
c.1848_1849insT
2 papers
NM_000336.3
p.P617T
c.1849C>A
9 papers
NM_000336.3
p.P616R
c.1847C>G
27 papers
NM_000336.3
p.P616L
c.1847C>T
11 papers
NM_000336.3
p.P617S
c.1849C>T
4 papers
NM_000336.3
p.P617fs
c.1849_1850fs
3 papers
NM_000336.3
p.P617H
c.1850C>A
3 papers
NM_000336.3
p.P616A
c.1846C>G
10 papers
NM_000336.3
p.P617L
c.1850C>T
7 papers
NM_000336.3
p.P616S
c.1846C>T
1 paper
NM_000336.3
p.P618fs
c.1852_1853fs
12 papers
NM_000336.3
p.P618S
c.1852C>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."