Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.R365R

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.R365R
c.1095C>A
Surrounding Variants
2 papers
NM_183377.2
p.I355_A357delFs
c.1065_1069del5
1 paper
NM_183377.2
p.S342S
c.1026C>T
1 paper
NM_183377.2
p.R341*
c.1021C>T
1 paper
NM_183377.2
p.L330I
c.988C>A
1 paper
NM_183377.2
p.G380Splc
c.1139-175C>A
1 paper
NM_183377.2
p.C385F
c.1154G>T
2 papers
NM_183377.2
p.C385_T386delFs
c.1153_1157del5
1 paper
NM_183377.2
p.P387L
c.1160C>T
1 paper
NM_183377.2
p.P387delins
c.1160_1161delinsTC
1 paper
NM_001094.5
p.A351T
c.1051G>A
5 papers
NM_183377.2
p.D405G
c.1214A>G
1 paper
NM_183377.2
p.E423A
c.1268A>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."