Varaico: Literature-Extracted Genetic Variants

Gene:KCNA6
Variant:p.G483W

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.G483W
c.1447G>T
Surrounding Variants
1 paper
NM_002235.5
p.A486E
c.1457C>A
1 paper
NM_002235.5
p.A486V
c.1457C>T
1 paper
NM_002235.5
p.D488Y
c.1462G>T
1 paper
NM_002235.5
p.A504V
c.1511C>T
1 paper
NM_002235.5
p.R508G
c.1522C>G
2 papers
NM_002235.5
p.V456L
c.1366G>C
2 papers
NM_002235.5
p.T449I
c.1346C>T
2 papers
NM_002235.5
p.V447F
c.1339G>T
1 paper
NM_002235.5
p.S440L
c.1319C>T
1 paper
NM_002235.5
p.G435R
c.1303G>A
1 paper
NM_002235.5
p.G435R
c.1303G>C
1 paper
NM_002235.5
p.T421I
c.1262C>T
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