Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.V404A

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.V404A
c.1211T>C
Surrounding Variants
27 papers
NM_000217.3
p.V404I
c.1210G>A
2 papers
NM_000217.3
p.P405A
c.1213C>G
11 papers
NM_000217.3
p.P405S
c.1213C>T
1 paper
NM_000217.3
p.P403P
c.1209C>T
1 paper
NM_000217.3
p.P405H
c.1214C>A
20 papers
NM_000217.3
p.P405L
c.1214C>T
1 paper
NM_000217.3
p.P403T
c.1207C>A
3 papers
NM_000217.3
p.P403A
c.1207C>G
11 papers
NM_000217.3
p.P403S
c.1207C>T
1 paper
NM_000217.3
p.V406D
c.1217T>A
6 papers
NM_000217.3
p.A401V
c.1202C>T
1 paper
NM_000217.3
p.A401T
c.1201G>A
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