Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.E238K

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
2 papers
NM_001095.4
p.E238K
c.712G>A
Surrounding Variants
5 papers
NM_001095.4
p.E238Q
c.712G>C
3 papers
NM_001095.4
p.E238A
c.713A>C
1 paper
NM_001095.4
p.E238V
c.713A>T
1 paper
NM_001095.4
p.T239T
c.717G>C
1 paper
NM_001095.4
p.S240C
c.719C>G
1 paper
NM_001095.4
p.E242K
c.724G>A
2 papers
NM_001095.4
p.E242Q
c.724G>C
1 paper
NM_001095.4
p.E242A
c.725A>C
1 paper
NM_001095.4
p.Q248K
c.742C>A
1 paper
NM_001095.4
p.H250N
c.748C>A
1 paper
NM_001095.4
p.D253N
c.757G>A
1 paper
NM_001095.4
p.E254Q
c.760G>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."