Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.N8K

KCNA1

409 papers

RefSeq Summary

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and ...

Pfam Domains

BTB_2aa 39–130UCSCBTB/POZ domain
Ion_transaa 166–419UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 1

HGNC Previous Symbol

AEMK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000217.3
p.N8K
c.24C>G
Surrounding Variants
2 papers
NM_000217.3
p.N8K
c.24C>A
1 paper
NM_000217.3
p.V9M
c.25G>A
1 paper
NM_000217.3
p.E7K
c.19G>A
1 paper
NM_000217.3
p.D10E
c.30C>A
1 paper
NM_000217.3
p.D10E
c.30C>G
1 paper
NM_000217.3
p.G6A
c.17G>C
1 paper
NM_000217.3
p.E11*
c.31G>T
1 paper
NM_000217.3
p.G6R
c.16G>A
1 paper
NM_000217.3
p.G6R
c.16G>C
1 paper
NM_000217.3
p.S5F
c.14C>T
1 paper
NM_000217.3
p.A12P
c.34G>C
1 paper
NM_000217.3
p.A12V
c.35C>T
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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."