Varaico: Literature-Extracted Genetic Variants

Gene:KCNA6
Variant:p.D27E

KCNA6

61 papers

RefSeq Summary

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

Pfam Domains

BTB_2aa 43–134UCSCBTB/POZ domain
Ion_transaa 173–469UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 6

HGNC Alias Symbols

Kv1.6; HBK2; PPP1R96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002235.5
p.D27E
c.81C>A
Surrounding Variants
1 paper
NM_002235.5
p.D27E
c.81C>G
1 paper
NM_002235.5
p.G20G
c.60A>G
1 paper
NM_002235.5
p.E14G
c.41A>G
1 paper
NM_002235.5
p.T8A
c.22A>G
1 paper
NM_002235.5
p.K5Q
c.13A>C
1 paper
NM_002235.5
p.R51C
c.151C>T
1 paper
NM_002235.5
p.R2K
c.5G>A
1 paper
NM_002235.5
p.T65M
c.194C>T
1 paper
NM_002235.5
p.R75R
c.225C>A
1 paper
NM_002235.5
p.N82N
c.246C>T
1 paper
NM_002235.5
p.F85_F86del1
c.255_257delCTT
1 paper
NM_002235.5
p.S102Y
c.305C>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."