Varaico: Literature-Extracted Genetic Variants

Gene:KCNA6

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
1–12 of 51 variants
2 papers
NM_002235.5
p.V447F
c.1339G>T
2 papers
NM_002235.5
p.T449I
c.1346C>T
2 papers
NM_002235.5
p.V456L
c.1366G>C
1 paper
NM_002235.5
p.R2K
c.5G>A
1 paper
NM_002235.5
p.K5Q
c.13A>C
1 paper
NM_002235.5
p.T8A
c.22A>G
1 paper
NM_002235.5
p.E14G
c.41A>G
1 paper
NM_002235.5
p.G20G
c.60A>G
1 paper
NM_002235.5
p.D27E
c.81C>A
1 paper
NM_002235.5
p.D27E
c.81C>G
1 paper
NM_002235.5
p.R51C
c.151C>T
1 paper
NM_002235.5
p.T65M
c.194C>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."