Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.D503V

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.D503V
c.1508A>T
Surrounding Variants
1 paper
NM_183377.2
p.Y504C
c.1511A>G
1 paper
NM_183377.2
p.I505T
c.1514T>C
1 paper
NM_183377.2
p.G488_T497delFs
c.1462_1489del28
1 paper
NM_183377.2
p.Q486H
c.1458G>T
1 paper
NM_183377.2
p.Q486H
c.1458G>C
1 paper
NM_001094.5
p.G430V
c.1289G>T
1 paper
NM_183377.2
p.G481C
c.1441G>T
1 paper
NM_183377.2
p.G481R
c.1441G>C
1 paper
NM_183377.2
p.P537Q
c.1610C>A
1 paper
NM_183377.2
p.S540C
c.1619C>G
1 paper
NM_183377.2
p.T542T
c.1626C>A
1 paper
NM_183377.2
p.G481R
c.1441G>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."