Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.Q568*

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
4 papers
NM_000336.3
p.Q568*
c.1702C>T
Surrounding Variants
1 paper
NM_000336.3
p.A569G
c.1706C>G
1 paper
NM_000336.3
p.A569V
c.1706C>T
4 papers
NM_000336.3
p.S570fs
c.1708_1709fs
1 paper
NM_000336.3
p.S570_G573delFs
c.1709_1719del11
22 papers
NM_000336.3
p.R566*
c.1696C>T
2 papers
NM_000336.3
p.S570N
c.1709G>A
1 paper
NM_000336.3
p.R565Q
c.1694G>A
1 paper
NM_000336.3
p.R565W
c.1693C>T
1 paper
NM_000336.3
p.Y571Fs
c.1711_1713delinsAAFs
1 paper
NM_000336.3
p.Y571fs
c.1711_1712fs
3 papers
NM_000336.3
p.Y571delFs
c.1713delC
2 papers
NM_000336.3
p.Q564_R565Fs
c.1691_1693delinsGFs
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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."