Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.Q73L

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.Q73L
c.218A>T
Surrounding Variants
1 paper
NM_004769.4
p.H72N
c.214C>A
1 paper
NM_004769.4
p.H72D
c.214C>G
1 paper
NM_004769.4
p.D77A
c.230A>C
1 paper
NM_004769.4
p.E78A
c.233A>C
1 paper
NM_004769.4
p.E78D
c.234G>C
1 paper
NM_004769.4
p.E78D
c.234G>T
1 paper
NM_004769.4
p.Y67*
c.201C>A
1 paper
NM_004769.4
p.Y67*
c.201C>G
4 papers
NM_004769.4
p.R79*
c.235C>T
1 paper
NM_004769.4
p.Y67F
c.200A>T
1 paper
NM_004769.4
p.F86L
c.256T>C
1 paper
NM_004769.4
p.F86L
c.258C>A
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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."