Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.C479R

SCNN1A

245 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 62–572UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

sodium channel epithelial 1 subunit alpha

HGNC Previous Symbol

SCNN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_001038.6
p.C479R
c.1435T>C
Surrounding Variants
1 paper
NM_001038.6
p.S480insFs
c.1439_1440insT
3 papers
NM_001038.6
p.S480Splc
c.1439+1G>C
2 papers
NM_001038.6
p.S480Splc
c.1439+1G>A
2 papers
NM_001159576.2
p.R535Q
c.1604G>A
2 papers
NM_001038.6
p.R476W
c.1426C>T
5 papers
NM_001038.6
p.H468delFs
c.1404delG
1 paper
NM_001038.6
p.D467N
c.1399G>A
1 paper
NM_001038.6
p.L460_Q461insFs
c.1380_1381insT
6 papers
NM_001038.6
p.G454Splc
c.1361-2A>G
3 papers
NM_001159576.2
p.V540M
c.1618G>A
NM_001038.6
p.V481M
c.1441G>A
1 paper
NM_001038.6
p.T482fs
c.1444_1445fs
4 papers
NM_001038.6
p.S483delFs
c.1449delG
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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."