Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P575fs

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
2 papers
NM_000336.3
p.P575fs
c.1723_1724fs
Surrounding Variants
1 paper
NM_000336.3
p.P574fs
c.1720_1721fs
2 papers
NM_000336.3
p.G573D
c.1718G>A
3 papers
NM_000336.3
p.P574delFs
c.1721delC
1 paper
NM_000336.3
p.Y571*
c.1713C>A
1 paper
NM_000336.3
p.Y571*
c.1713C>G
1 paper
NM_000336.3
p.A579_G589delFs
c.1735_1766del32
3 papers
NM_000336.3
p.Y571delFs
c.1713delC
3 papers
NM_000336.3
p.A579fs
c.1735_1736fs
1 paper
NM_000336.3
p.Y571Fs
c.1711_1713delinsAAFs
1 paper
NM_000336.3
p.Y571fs
c.1711_1712fs
2 papers
NM_000336.3
p.S570N
c.1709G>A
4 papers
NM_000336.3
p.S570fs
c.1708_1709fs
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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."