Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.M455I

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.M455I
c.1365G>A
Surrounding Variants
1 paper
NM_000217.3
p.M455I
c.1365G>C
1 paper
NM_000217.3
p.M455I
c.1365G>T
1 paper
NM_000217.3
p.E456K
c.1366G>A
1 paper
NM_000217.3
p.E456Q
c.1366G>C
1 paper
NM_000217.3
p.M455K
c.1364T>A
1 paper
NM_000217.3
p.M455V
c.1363A>G
1 paper
NM_000217.3
p.I457I
c.1371C>A
1 paper
NM_000217.3
p.I457I
c.1371C>T
2 papers
NM_000217.3
p.E458*
c.1372G>T
1 paper
NM_000217.3
p.D460Y
c.1378G>T
1 paper
NM_000217.3
p.M461V
c.1381A>G
1 paper
NM_000217.3
p.M461T
c.1382T>C
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