Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.R98H

ASIC3

103 papers

RefSeq Summary

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C term...

Pfam Domains

ASCaa 20–459UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit 3

HGNC Previous Symbol

ACCN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004769.4
p.R98H
c.293G>A
Surrounding Variants
1 paper
NM_004769.4
p.R99H
c.296G>A
1 paper
NM_004769.4
p.P96Q
c.287C>A
1 paper
NM_004769.4
p.R101del1
c.301_303delCGC
1 paper
NM_004769.4
p.R101L
c.302G>T
1 paper
NM_004769.4
p.N105D
c.313A>G
1 paper
NM_004769.4
p.F86L
c.258C>A
1 paper
NM_004769.4
p.F86L
c.258C>G
1 paper
NM_004769.4
p.F86L
c.256T>C
1 paper
NM_004769.4
p.A113V
c.338C>T
1 paper
NM_004769.4
p.A113A
c.339G>A
4 papers
NM_004769.4
p.R79*
c.235C>T
1 paper
NM_004769.4
p.E78D
c.234G>C
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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."