Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.Y159H

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.Y159H
c.475T>C
Surrounding Variants
1 paper
NM_000217.3
p.Y159*
c.477C>A
2 papers
NM_000217.3
p.E161K
c.481G>A
2 papers
NM_000217.3
p.L156P
c.467T>C
4 papers
NM_000217.3
p.L155P
c.464T>C
1 paper
NM_000217.3
p.S163P
c.487T>C
1 paper
NM_000217.3
p.W154G
c.460T>G
1 paper
NM_000217.3
p.V153A
c.458T>C
1 paper
NM_000217.3
p.V153L
c.457G>C
1 paper
NM_000217.3
p.V153L
c.457G>T
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.R151C
c.451C>T
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