Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.S240A

KCNA3

1,456 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 106–197UCSCBTB/POZ domain
Ion_transaa 233–491UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 3

HGNC Alias Symbols

Kv1.3; MK3; HLK3; HPCN3; RP11-284N8.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002232.5
p.S240A
c.718T>G
Surrounding Variants
2 papers
NM_002232.5
p.S240S
c.720C>T
1 paper
NM_002232.5
p.S240S
c.720C>G
1 paper
NM_002232.5
p.V241A
c.722T>C
1 paper
NM_002232.5
p.I238F
c.712A>T
1 paper
NM_002232.5
p.L242P
c.725T>C
1 paper
NM_002232.5
p.V243V
c.729C>A
2 papers
NM_002232.5
p.G235A
c.704G>C
1 paper
NM_002232.5
p.R234W
c.700C>T
1 paper
NM_002232.5
p.A233G
c.698C>G
1 paper
NM_002232.5
p.A233T
c.697G>A
1 paper
NM_002232.5
p.P232P
c.696G>A
2 papers
NM_002232.5
p.G231A
c.692G>C
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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."