Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.T266I

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.T266I
c.797C>T
Surrounding Variants
1 paper
NM_002234.4
p.I265M
c.795C>G
1 paper
NM_002234.4
p.C268R
c.802T>C
1 paper
NM_002234.4
p.I262T
c.785T>C
1 paper
NM_002234.4
p.T271N
c.812C>A
1 paper
NM_002234.4
p.I260F
c.778A>T
1 paper
NM_002234.4
p.P273insFs
c.817dupC
1 paper
NM_002234.4
p.V259D
c.776T>A
3 papers
NM_002234.4
p.V259I
c.775G>A
1 paper
NM_002234.4
p.V259F
c.775G>T
1 paper
NM_002234.4
p.V257A
c.770T>C
1 paper
NM_002234.4
p.F275S
c.824T>C
1 paper
NM_002234.4
p.F275F
c.825C>T
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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."