Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.L430delFs

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.L430delFs
c.1290delA
Surrounding Variants
3 papers
NM_000336.3
p.L430fs
c.1288_1289fs
1 paper
NM_000336.3
p.Q431fs
c.1291_1292fs
5 papers
NM_000336.3
p.L430delFs
c.1288delC
1 paper
NM_000336.3
p.L430_A435del6
c.1288_1304del18
3 papers
NM_000336.3
p.V434M
c.1300G>A
1 paper
NM_000336.3
p.A435delFs
c.1305delG
1 paper
NM_000336.3
p.E438G
c.1313A>G
1 paper
NM_000336.3
p.E438D
c.1314G>C
1 paper
NM_000336.3
p.E438D
c.1314G>T
19 papers
NM_000336.3
p.G442V
c.1325G>T
1 paper
NM_000336.3
p.C444C
c.1332C>T
1 paper
NM_000336.3
p.K445N
c.1335G>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."