Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.Y150C

ASIC3

103 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 20–459UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit 3

HGNC Previous Symbol

ACCN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004769.4
p.Y150C
c.449A>G
Surrounding Variants
1 paper
NM_004769.4
p.Q148Q
c.444A>G
2 papers
NM_004769.4
p.R152H
c.455G>A
1 paper
NM_004769.4
p.A147T
c.439G>A
1 paper
NM_004769.4
p.P142delFs
c.425_426delCC
1 paper
NM_004769.4
p.R165C
c.493C>T
1 paper
NM_004769.4
p.A134T
c.400G>A
1 paper
NM_004769.4
p.P133fs
c.397_398fs
1 paper
NM_004769.4
p.A128T
c.382G>A
1 paper
NM_004769.4
p.A123T
c.367G>A
1 paper
NM_004769.4
p.A123_F125delFs
c.367_373del7
1 paper
NM_004769.4
p.T178M
c.533C>T
1 paper
NM_004769.4
p.A113A
c.339G>A
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