Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.G314E

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
1 paper
NM_004769.4
p.G314E
c.941G>A
Surrounding Variants
1 paper
NM_004769.4
p.E320V
c.959A>T
1 paper
NM_004769.4
p.A325T
c.973G>A
2 papers
NM_004769.4
p.S301_S303del0
c.903_908del6
1 paper
NM_004769.4
p.S301del1
c.901_902delTCC
1 paper
NM_004769.4
p.S301_S303del3
c.901_908del9
1 paper
NM_004769.4
p.D297H
c.889G>C
1 paper
NM_004769.4
p.Y334C
c.1001A>G
2 papers
NM_004769.4
p.P289S
c.865C>T
1 paper
NM_004769.4
p.Q345K
c.1033C>A
1 paper
NM_004769.4
p.D356A
c.1067A>C
1 paper
NM_004769.4
p.Q271R
c.812A>G
1 paper
NM_004769.4
p.Q271E
c.811C>G
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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."