Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L330F

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
1 paper
NM_004974.4
p.L330F
c.988C>T
Surrounding Variants
3 papers
NM_004974.4
p.L330R
c.989T>G
1 paper
NM_004974.4
p.L330H
c.989T>A
10 papers
NM_004974.4
p.L328V
c.982T>G
1 paper
NM_004974.4
p.E327V
c.980A>T
2 papers
NM_004974.4
p.E327A
c.980A>C
1 paper
NM_004974.4
p.F333V
c.997T>G
3 papers
NM_004974.4
p.F333L
c.997T>C
1 paper
NM_004974.4
p.R326S
c.978A>T
1 paper
NM_004974.4
p.R326S
c.978A>C
2 papers
NM_004974.4
p.R326K
c.977G>A
3 papers
NM_004974.4
p.F333L
c.999C>G
3 papers
NM_004974.4
p.F333L
c.999C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."