Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.D246A

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
1 paper
NM_001038.6
p.D246A
c.737A>C
Surrounding Variants
1 paper
NM_001038.6
p.V245M
c.733G>A
3 papers
NM_001038.6
p.V245fs
c.733_734fs
6 papers
NM_001038.6
p.V248delFs
c.742delC
4 papers
NM_001038.6
p.S243_G244delFs
c.729_730delCT
1 paper
NM_001038.6
p.V248V
c.744G>T
4 papers
NM_001038.6
p.S243delFs
c.729delT
1 paper
NM_001038.6
p.S243fs
c.727_728fs
7 papers
NM_001038.6
p.S243P
c.727T>C
1 paper
NM_001038.6
p.E250A
c.749A>C
1 paper
NM_001038.6
p.W251S
c.752G>C
1 paper
NM_001038.6
p.Q239_T240delins
c.717_718delinsTT
1 paper
NM_001038.6
p.R253C
c.757C>T
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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."