Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.E187Q

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.E187Q
c.559G>C
Surrounding Variants
1 paper
NM_000217.3
p.E187K
c.559G>A
14 papers
NM_000217.3
p.C185W
c.555C>G
1 paper
NM_000217.3
p.C185R
c.553T>C
35 papers
NM_000217.3
p.F184C
c.551T>G
1 paper
NM_000217.3
p.P190fs
c.568_569fs
1 paper
NM_000217.3
p.K193E
c.577A>G
1 paper
NM_000217.3
p.S180P
c.538T>C
1 paper
NM_000217.3
p.I179M
c.537C>G
1 paper
NM_000217.3
p.D195N
c.583G>A
1 paper
NM_000217.3
p.D195E
c.585C>A
1 paper
NM_000217.3
p.D195E
c.585C>G
1 paper
NM_000217.3
p.K196R
c.587A>G
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