Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.Q235H

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
1 paper
NM_002234.4
p.Q235H
c.705G>T
Surrounding Variants
1 paper
NM_002234.4
p.Q235H
c.705G>C
2 papers
NM_002234.4
p.Q235P
c.704A>C
1 paper
NM_002234.4
p.V236M
c.706G>A
1 paper
NM_002234.4
p.R234L
c.701G>T
1 paper
NM_002234.4
p.R234S
c.700C>A
1 paper
NM_002234.4
p.L238F
c.712C>T
1 paper
NM_002234.4
p.N230K
c.690C>A
1 paper
NM_002234.4
p.N230K
c.690C>G
1 paper
NM_002234.4
p.N230S
c.689A>G
1 paper
NM_002234.4
p.N230H
c.688A>C
1 paper
NM_002234.4
p.R229G
c.685C>G
2 papers
NM_002234.4
p.P228H
c.683C>A
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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."