Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.P87delFs

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.P87delFs
c.261delC
Surrounding Variants
4 papers
NM_000217.3
p.R86Q
c.257G>A
1 paper
NM_000217.3
p.R86P
c.257G>C
1 paper
NM_000217.3
p.P87R
c.260C>G
1 paper
NM_000217.3
p.R86W
c.256C>T
1 paper
NM_000217.3
p.N85_R86del1
c.255_257delCCG
1 paper
NM_000217.3
p.S88N
c.263G>A
1 paper
NM_000217.3
p.R84S
c.250C>A
1 paper
NM_000217.3
p.R84G
c.250C>G
2 papers
NM_000217.3
p.D90N
c.268G>A
1 paper
NM_000217.3
p.D90H
c.268G>C
1 paper
NM_000217.3
p.D83N
c.247G>A
1 paper
NM_000217.3
p.A91delFs
c.272delC
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