Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.E79Q

ASIC1

154 papers

RefSeq Summary

This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are s...

Pfam Domains

ASCaa 21–456UCSCAmiloride-sensitive sodium channel
ASCaa 21–456UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit 1

HGNC Previous Symbol

ACCN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001095.4
p.E79Q
c.235G>C
Surrounding Variants
3 papers
NM_001095.4
p.E79K
c.235G>A
1 paper
NM_001095.4
p.E79*
c.235G>T
4 papers
NM_001095.4
p.E79A
c.236A>C
1 paper
NM_001095.4
p.D78A
c.233A>C
1 paper
NM_001095.4
p.E79D
c.237G>C
1 paper
NM_001095.4
p.E79D
c.237G>T
1 paper
NM_001095.4
p.D78N
c.232G>A
1 paper
NM_001095.4
p.L77R
c.230T>G
1 paper
NM_001095.4
p.L77F
c.229C>T
1 paper
NM_001095.4
p.A81D
c.242C>A
1 paper
NM_001095.4
p.A82T
c.244G>A
1 paper
NM_001095.4
p.S83T
c.247T>A
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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."