Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.G226A

ASIC2

168 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 20–453UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit 2

HGNC Previous Symbols

ACCN; ACCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_183377.2
p.G226A
c.677G>C
Surrounding Variants
1 paper
NM_183377.2
p.G226R
c.676G>C
2 papers
NM_183377.2
p.G230E
c.689G>A
1 paper
NM_183377.2
p.P231T
c.691C>A
1 paper
NM_183377.2
p.F207_H213delFs
c.621_637del17
1 paper
NM_183377.2
p.H213N
c.637C>A
1 paper
NM_183377.2
p.G212D
c.635G>A
1 paper
NM_183377.2
p.D209N
c.625G>A
1 paper
NM_183377.2
p.F207fs
c.619_620fs
1 paper
NM_183377.2
p.S204G
c.610A>G
1 paper
NM_183377.2
p.L195L
c.583C>T
1 paper
NM_183377.2
p.F194S
c.581T>C
3 papers
NM_183377.2
p.R181P
c.542G>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."