Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2

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
1–12 of 107 variants
5 papers
NM_183377.2
p.D405G
c.1214A>G
3 papers
NM_183377.2
p.K148T
c.443A>C
3 papers
NM_183377.2
p.L175L
c.525G>C
3 papers
NM_183377.2
p.R181P
c.542G>C
2 papers
NM_183377.2
p.R46L
c.137G>T
2 papers
NM_183377.2
p.P59S
c.175C>T
2 papers
NM_183377.2
p.R107H
c.320G>A
2 papers
NM_183377.2
p.R122H
c.365G>A
2 papers
NM_183377.2
p.K148M
c.443A>T
2 papers
NM_183377.2
p.G230E
c.689G>A
2 papers
NM_183377.2
p.I355_A357delFs
c.1065_1069del5
2 papers
NM_183377.2
p.C385_T386delFs
c.1153_1157del5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."