Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.Q150P

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.Q150P
c.449A>C
Surrounding Variants
1 paper
NM_000217.3
p.Q150R
c.449A>G
1 paper
NM_000217.3
p.Q150H
c.450G>T
1 paper
NM_000217.3
p.Y149*
c.447C>A
1 paper
NM_000217.3
p.Y149*
c.447C>G
1 paper
NM_000217.3
p.Y149Y
c.447C>T
1 paper
NM_000217.3
p.R151C
c.451C>T
2 papers
NM_000217.3
p.Y149C
c.446A>G
1 paper
NM_000217.3
p.Y149F
c.446A>T
1 paper
NM_000217.3
p.Y149H
c.445T>C
1 paper
NM_000217.3
p.V153L
c.457G>C
1 paper
NM_000217.3
p.V153L
c.457G>T
1 paper
NM_000217.3
p.K147M
c.440A>T
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