Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.R46L

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
2 papers
NM_183377.2
p.R46L
c.137G>T
Surrounding Variants
1 paper
NM_183377.2
p.R42I
c.125G>T
1 paper
NM_183377.2
p.G50G
c.150G>C
1 paper
NM_183377.2
p.A54A
c.162C>T
1 paper
NM_183377.2
p.P38A
c.112C>G
1 paper
NM_183377.2
p.Q37E
c.109C>G
1 paper
NM_183377.2
p.G57R
c.169G>A
2 papers
NM_183377.2
p.P59S
c.175C>T
1 paper
NM_183377.2
p.P59A
c.175C>G
1 paper
NM_183377.2
p.A28T
c.82G>A
1 paper
NM_183377.2
p.R24C
c.70C>T
1 paper
NM_183377.2
p.H71Y
c.211C>T
1 paper
NM_183377.2
p.R21L
c.62G>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."