Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R87Q

KCNA5

333 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002234.4
p.R87Q
c.260G>A
Surrounding Variants
1 paper
NM_002234.4
p.P86P
c.258A>C
1 paper
NM_002234.4
p.P88S
c.262C>T
1 paper
NM_002234.4
p.L85R
c.254T>G
1 paper
NM_002234.4
p.L85_P86del1
c.255_257delGCC
2 papers
NM_002234.4
p.L85M
c.253C>A
1 paper
NM_002234.4
p.R90W
c.268C>T
2 papers
NM_002234.4
p.E84A
c.251A>C
10 papers
NM_002234.4
p.E84V
c.251A>T
1 paper
NM_002234.4
p.R90L
c.269G>T
4 papers
NM_002234.4
p.P91L
c.272C>T
1 paper
NM_002234.4
p.P91P
c.273G>A
1 paper
NM_002234.4
p.P92delFs
c.274delC
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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."