Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.F254L

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.F254L
c.762C>G
Surrounding Variants
1 paper
NM_001038.6
p.F254L
c.762C>A
1 paper
NM_001038.6
p.F254L
c.760T>C
1 paper
NM_001038.6
p.R253C
c.757C>T
1 paper
NM_001038.6
p.W251S
c.752G>C
1 paper
NM_001038.6
p.N258S
c.773A>G
1 paper
NM_001038.6
p.E250A
c.749A>C
1 paper
NM_001038.6
p.V248V
c.744G>T
6 papers
NM_001038.6
p.V248delFs
c.742delC
1 paper
NM_001038.6
p.D246A
c.737A>C
1 paper
NM_001038.6
p.P264S
c.790C>T
1 paper
NM_001038.6
p.V245M
c.733G>A
3 papers
NM_001038.6
p.V245fs
c.733_734fs
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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."