Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P46delFs

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.P46delFs
c.138delC
Surrounding Variants
1 paper
NM_000336.3
p.K47R
c.140A>G
1 paper
NM_000336.3
p.K48E
c.142A>G
1 paper
NM_000336.3
p.R40C
c.118C>T
1 paper
NM_000336.3
p.P38S
c.112C>T
7 papers
NM_000336.3
p.G37S
c.109G>A
1 paper
NM_000336.3
p.H36_K39del4
c.106_116del12
1 paper
NM_000336.3
p.T35A
c.103A>G
1 paper
NM_000336.3
p.T33T
c.99C>T
1 paper
NM_000336.3
p.D31N
c.91G>A
1 paper
NM_000336.3
p.C30*
c.90C>A
4 papers
NM_000336.3
p.Y29*
c.87C>A
1 paper
NM_000336.3
p.A61A
c.183C>A
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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."