Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.G433C

ASIC1

154 papers

RefSeq Summary

This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are s...

Pfam Domains

ASCaa 21–456UCSCAmiloride-sensitive sodium channel
ASCaa 21–456UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit 1

HGNC Previous Symbol

ACCN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001095.4
p.G433C
c.1297G>T
Surrounding Variants
1 paper
NM_001095.4
p.G433S
c.1297G>A
2 papers
NM_001095.4
p.G430V
c.1289G>T
2 papers
NM_001095.4
p.Y426*
c.1278T>A
2 papers
NM_001095.4
p.Y426*
c.1278T>G
2 papers
NM_001095.4
p.E418A
c.1253A>C
1 paper
NM_001095.4
p.Y417C
c.1250A>G
1 paper
NM_001095.4
p.G433Splc
c.1297+47C>T
1 paper
NM_001095.4
p.L415P
c.1244T>C
1 paper
NM_001095.4
p.L415R
c.1244T>G
1 paper
NM_001095.4
p.E413A
c.1238A>C
1 paper
NM_001095.4
p.E413*
c.1237G>T
1 paper
NM_001095.4
p.D409A
c.1226A>C
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