Varaico: Literature-Extracted Genetic Variants

Gene:ASIC3
Variant:p.G43_M44del1

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.G43_M44del1
c.129_131delGAT
Surrounding Variants
1 paper
NM_004769.4
p.G43_V49del0
c.128_145del18
1 paper
NM_004769.4
p.R41_W45del0
c.123_134del12
1 paper
NM_004769.4
p.R41_V53del0
c.122_157del36
1 paper
NM_004769.4
p.R41_A46del0
c.121_138del18
1 paper
NM_004769.4
p.A46_L51del0
c.138_152del15
1 paper
NM_004769.4
p.S39_R41delins
c.116_122delinsC
1 paper
NM_004769.4
p.L38_A46del0
c.112_138del27
1 paper
NM_004769.4
p.G36del1
c.106_108delGGC
1 paper
NM_004769.4
p.P35_L40del0
c.105_119del15
1 paper
NM_004769.4
p.P35A
c.103C>G
1 paper
NM_004769.4
p.P35_A46del0
c.103_138del36
1 paper
NM_004769.4
p.V32A
c.95T>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."