Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.Y429*

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.Y429*
c.1287T>G
Surrounding Variants
1 paper
NM_004769.4
p.Y429*
c.1287T>A
1 paper
NM_004769.4
p.Q425_K426del1
c.1274_1276delAGA
1 paper
NM_004769.4
p.Q425_K426del2
c.1273_1277del6
1 paper
NM_004769.4
p.E416K
c.1246G>A
1 paper
NM_004769.4
p.E416Q
c.1246G>C
1 paper
NM_004769.4
p.G439R
c.1315G>A
1 paper
NM_004769.4
p.G439R
c.1315G>C
1 paper
NM_004769.4
p.M442_S449delFs
c.1324_1346del23
1 paper
NM_004769.4
p.M442fs
c.1324_1325fs
2 papers
NM_004769.4
p.R465Q
c.1394G>A
1 paper
NM_004769.4
p.V468delFs
c.1402delG
1 paper
NM_004769.4
p.R475*
c.1423C>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."