Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.L329P

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.L329P
c.986T>C
Surrounding Variants
12 papers
NM_000217.3
p.L329I
c.985C>A
1 paper
NM_000217.3
p.L329F
c.985C>T
1 paper
NM_000217.3
p.I330F
c.988A>T
14 papers
NM_000217.3
p.L328V
c.982C>G
1 paper
NM_000217.3
p.F331I
c.991T>A
1 paper
NM_000217.3
p.G327insFs
c.980_981insT
1 paper
NM_000217.3
p.F331C
c.992T>G
1 paper
NM_000217.3
p.G327R
c.979G>A
1 paper
NM_000217.3
p.F332S
c.995T>C
1 paper
NM_000217.3
p.L326V
c.976C>G
35 papers
NM_000217.3
p.E325D
c.975G>C
35 papers
NM_000217.3
p.E325D
c.975G>T
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