Varaico: Literature-Extracted Genetic Variants

Gene:ASIC5
Variant:p.K287_T288Splc

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
1 paper
NM_017419.3
p.K287_T288Splc
c.861+51A>T
Surrounding Variants
2 papers
NM_017419.3
p.R284C
c.850C>T
1 paper
NM_017419.3
p.P274T
c.820C>A
1 paper
NM_017419.3
p.I254T
c.761T>C
1 paper
NM_017419.3
p.I254V
c.760A>G
1 paper
NM_017419.3
p.P294T
c.880C>A
1 paper
NM_017419.3
p.S311N
c.932G>A
1 paper
NM_017419.3
p.D356Splc
c.1067-31T>C
1 paper
NM_017419.3
p.P374P
c.1122C>T
1 paper
NM_017419.3
p.I380T
c.1139T>C
3 papers
NM_017419.3
p.R227I
c.680G>T
1 paper
NM_017419.3
p.E203A
c.608A>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."