Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.R64C

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
1 paper
NM_001095.4
p.R64C
c.190C>T
Surrounding Variants
1 paper
NM_001095.4
p.E63A
c.188A>C
1 paper
NM_001095.4
p.E63K
c.187G>A
1 paper
NM_001095.4
p.E63Q
c.187G>C
1 paper
NM_001095.4
p.C61S
c.182G>C
1 paper
NM_001095.4
p.C61S
c.181T>A
1 paper
NM_001095.4
p.Y67C
c.200A>G
1 paper
NM_001095.4
p.Y71C
c.212A>G
1 paper
NM_001095.4
p.Y71*
c.213C>A
1 paper
NM_001095.4
p.H72N
c.214C>A
1 paper
NM_001095.4
p.H73N
c.217C>A
1 paper
NM_001095.4
p.L54L
c.162G>C
1 paper
NM_001095.4
p.S53S
c.159C>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."