Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.P145P

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.P145P
c.435C>G
Surrounding Variants
1 paper
NM_000217.3
p.P145L
c.434C>T
1 paper
NM_000217.3
p.E146Q
c.436G>C
1 paper
NM_000217.3
p.E146*
c.436G>T
1 paper
NM_000217.3
p.E146E
c.438G>A
1 paper
NM_000217.3
p.P145delFs
c.434delC
1 paper
NM_000217.3
p.K147M
c.440A>T
1 paper
NM_000217.3
p.L144V
c.430C>G
1 paper
NM_000217.3
p.P143S
c.427C>T
1 paper
NM_000217.3
p.Y149H
c.445T>C
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.R142S
c.424C>A
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