Varaico: Literature-Extracted Genetic Variants

Gene:ASIC5
Variant:p.E440G

ASIC5

45 papers

RefSeq Summary

This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-...

Pfam Domains

ASCaa 41–466UCSCAmiloride-sensitive sodium channel

Gene Aliases

HGNC Name

acid sensing ion channel subunit family member 5

HGNC Previous Symbol

ACCN5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017419.3
p.E440G
c.1319A>G
Surrounding Variants
2 papers
NM_017419.3
p.E440Q
c.1318G>C
1 paper
NM_017419.3
p.G447C
c.1339G>T
1 paper
NM_017419.3
p.G447R
c.1339G>C
1 paper
NM_017419.3
p.A455V
c.1364C>T
1 paper
NM_017419.3
p.I463S
c.1388T>G
1 paper
NM_017419.3
p.N470S
c.1409A>G
1 paper
NM_017419.3
p.W473L
c.1418G>T
1 paper
NM_017419.3
p.C475W
c.1425C>G
1 paper
NM_017419.3
p.F478Y
c.1433T>A
1 paper
NM_017419.3
p.I380T
c.1139T>C
1 paper
NM_017419.3
p.P374P
c.1122C>T
1 paper
NM_017419.3
p.D356Splc
c.1067-31T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."