Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.R107C

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.R107C
c.319C>T
Surrounding Variants
2 papers
NM_183377.2
p.R107H
c.320G>A
1 paper
NM_183377.2
p.L99V
c.295T>G
1 paper
NM_183377.2
p.F97insFs
c.291dupC
1 paper
NM_183377.2
p.R119W
c.355C>T
2 papers
NM_183377.2
p.R122H
c.365G>A
1 paper
NM_183377.2
p.V90G
c.269T>G
1 paper
NM_183377.2
p.W124R
c.370T>C
1 paper
NM_183377.2
p.V90L
c.268G>C
1 paper
NM_183377.2
p.S125N
c.374G>A
1 paper
NM_183377.2
p.P131S
c.391C>T
1 paper
NM_183377.2
p.A79V
c.236C>T
1 paper
NM_183377.2
p.H71Y
c.211C>T
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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."