Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.T615P

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.T615P
c.1843A>C
Surrounding Variants
1 paper
NM_000336.3
p.G614_T615insFs
c.1842_1843insT
3 papers
NM_000336.3
p.P616A
c.1846C>G
7 papers
NM_000336.3
p.P616S
c.1846C>T
9 papers
NM_000336.3
p.P616R
c.1847C>G
27 papers
NM_000336.3
p.P616L
c.1847C>T
8 papers
NM_000336.3
p.P618insFs
c.1854dupC
2 papers
NM_000336.3
p.P616_P617insFs
c.1848_1849insT
2 papers
NM_000336.3
p.P617T
c.1849C>A
11 papers
NM_000336.3
p.P617S
c.1849C>T
1 paper
NM_000336.3
p.P613S
c.1837C>T
3 papers
NM_000336.3
p.P613fs
c.1837_1838fs
4 papers
NM_000336.3
p.P617fs
c.1849_1850fs
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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."