Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L290R

KCNA2

401 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 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_004974.4
p.L290R
c.869T>G
Surrounding Variants
3 papers
NM_004974.4
p.L290P
c.869T>C
1 paper
NM_004974.4
p.L290Q
c.869T>A
1 paper
NM_004974.4
p.S289P
c.865T>C
2 papers
NM_004974.4
p.M288T
c.863T>C
1 paper
NM_004974.4
p.M288V
c.862A>G
1 paper
NM_004974.4
p.L293F
c.877C>T
1 paper
NM_004974.4
p.L293R
c.878T>G
9 papers
NM_004974.4
p.L293H
c.878T>A
1 paper
NM_004974.4
p.R294C
c.880C>T
1 paper
NM_004974.4
p.R294S
c.880C>A
1 paper
NM_004974.4
p.R294P
c.881G>C
16 papers
NM_004974.4
p.R294H
c.881G>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."