Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.K148M

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.K148M
c.443A>T
Surrounding Variants
3 papers
NM_183377.2
p.K148T
c.443A>C
1 paper
NM_183377.2
p.G149R
c.445G>C
1 paper
NM_183377.2
p.R145P
c.434G>C
1 paper
NM_183377.2
p.R145H
c.434G>A
1 paper
NM_183377.2
p.P144A
c.430C>G
1 paper
NM_183377.2
p.P144insFs
c.430_431insGA
1 paper
NM_183377.2
p.G155D
c.464G>A
1 paper
NM_183377.2
p.W157*
c.470G>A
1 paper
NM_183377.2
p.P163P
c.489C>G
1 paper
NM_183377.2
p.P131S
c.391C>T
1 paper
NM_183377.2
p.S125N
c.374G>A
1 paper
NM_183377.2
p.W124R
c.370T>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."