Varaico: Literature-Extracted Genetic Variants

Gene:KCNA6
Variant:p.T233A

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.T233A
c.697A>G
Surrounding Variants
1 paper
NM_002235.5
p.D230N
c.688G>A
1 paper
NM_002235.5
p.G241W
c.721G>T
1 paper
NM_002235.5
p.S249S
c.747C>A
1 paper
NM_002235.5
p.G255_S257del3
c.763_770del9
1 paper
NM_002235.5
p.G256C
c.766G>T
1 paper
NM_002235.5
p.N208_V211delFs
c.624_633del10
1 paper
NM_002235.5
p.N208fs
c.622_623fs
1 paper
NM_002235.5
p.D261E
c.783C>A
1 paper
NM_002235.5
p.D261E
c.783C>G
1 paper
NM_002235.5
p.T268K
c.803C>A
1 paper
NM_002235.5
p.F276S
c.827T>C
1 paper
NM_002235.5
p.A284T
c.850G>A
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