Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.I249F

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
2 papers
NM_004769.4
p.I249F
c.745A>T
Surrounding Variants
1 paper
NM_004769.4
p.D251G
c.752A>G
1 paper
NM_004769.4
p.Q252H
c.756G>C
1 paper
NM_004769.4
p.Q252H
c.756G>T
1 paper
NM_004769.4
p.G256G
c.768G>T
1 paper
NM_004769.4
p.P259Q
c.776C>A
1 paper
NM_004769.4
p.R238Q
c.713G>A
1 paper
NM_004769.4
p.T263T
c.789C>T
2 papers
NM_004769.4
p.E230A
c.689A>C
1 paper
NM_004769.4
p.Q269E
c.805C>G
1 paper
NM_004769.4
p.Q269R
c.806A>G
1 paper
NM_004769.4
p.Q270E
c.808C>G
1 paper
NM_004769.4
p.Q271E
c.811C>G
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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."