Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.T601S

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.T601S
c.1801A>T
Surrounding Variants
4 papers
NM_000336.3
p.T601fs
c.1801_1802fs
4 papers
NM_000336.3
p.N600_T601insFs
c.1800_1801insG
1 paper
NM_000336.3
p.T601S
c.1802C>G
5 papers
NM_000336.3
p.G602insFs
c.1806dupG
6 papers
NM_000336.3
p.P603fs
c.1807_1808fs
3 papers
NM_000336.3
p.Y604*
c.1812C>A
3 papers
NM_000336.3
p.Y604*
c.1812C>G
3 papers
NM_000336.3
p.R597H
c.1790G>A
1 paper
NM_000336.3
p.R597P
c.1790G>C
1 paper
NM_000336.3
p.R597fs
c.1789_1790fs
6 papers
NM_000336.3
p.R597fs
c.1789_1790fs
1 paper
NM_000336.3
p.R597insFs
c.1789_1790dupCG
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