Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.E219Q

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
3 papers
NM_001095.4
p.E219Q
c.655G>C
Surrounding Variants
1 paper
NM_001095.4
p.E219K
c.655G>A
1 paper
NM_001095.4
p.E219A
c.656A>C
1 paper
NM_001095.4
p.M221T
c.662T>C
1 paper
NM_001095.4
p.N216S
c.647A>G
1 paper
NM_001095.4
p.L222M
c.664C>A
1 paper
NM_001095.4
p.D223N
c.667G>A
1 paper
NM_001095.4
p.G215C
c.643G>T
1 paper
NM_001095.4
p.T214S
c.640A>T
2 papers
NM_001095.4
p.G212D
c.635G>A
2 papers
NM_001095.4
p.K211R
c.632A>G
1 paper
NM_001095.4
p.K211E
c.631A>G
1 paper
NM_001095.4
p.D227N
c.679G>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."