Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.S163P

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.S163P
c.487T>C
Surrounding Variants
2 papers
NM_000217.3
p.E161K
c.481G>A
2 papers
NM_000217.3
p.A166T
c.496G>A
1 paper
NM_000217.3
p.A166P
c.496G>C
1 paper
NM_000217.3
p.Y159*
c.477C>A
1 paper
NM_000217.3
p.Y159H
c.475T>C
13 papers
NM_000217.3
p.R167M
c.500G>T
1 paper
NM_000217.3
p.V168I
c.502G>A
1 paper
NM_000217.3
p.V168delFs
c.504delC
2 papers
NM_000217.3
p.L156P
c.467T>C
1 paper
NM_000217.3
p.A170T
c.508G>A
8 papers
NM_000217.3
p.A170S
c.508G>T
4 papers
NM_000217.3
p.L155P
c.464T>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."