Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.T594M

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
31 papers
NM_000336.3
p.T594M
c.1781C>T
Surrounding Variants
4 papers
NM_000336.3
p.T594insFs
c.1781dupC
1 paper
NM_000336.3
p.T594ins1
c.1781_1782insTCC
2 papers
NM_000336.3
p.T594fs
c.1780_1781fs
1 paper
NM_000336.3
p.T594T
c.1782G>A
5 papers
NM_000336.3
p.R597insFs
c.1789dupC
3 papers
NM_000336.3
p.R597delFs
c.1789delC
3 papers
NM_000336.3
p.A595fs
c.1783_1784fs
1 paper
NM_000336.3
p.R597insFs
c.1789_1790dupCG
4 papers
NM_000336.3
p.P592S
c.1774C>T
1 paper
NM_000336.3
p.R597fs
c.1789_1790fs
6 papers
NM_000336.3
p.R597fs
c.1789_1790fs
3 papers
NM_000336.3
p.R597H
c.1790G>A
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