Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.G6R

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.G6R
c.16G>A
Surrounding Variants
1 paper
NM_000217.3
p.G6R
c.16G>C
1 paper
NM_000217.3
p.G6A
c.17G>C
1 paper
NM_000217.3
p.S5F
c.14C>T
1 paper
NM_000217.3
p.E7K
c.19G>A
1 paper
NM_000217.3
p.S5_G6insGGT
c.13_17ins9
1 paper
NM_000217.3
p.M4I
c.12G>A
1 paper
NM_000217.3
p.M4I
c.12G>C
1 paper
NM_000217.3
p.M4I
c.12G>T
2 papers
NM_000217.3
p.M4R
c.11T>G
1 paper
NM_000217.3
p.M4L
c.10A>C
1 paper
NM_000217.3
p.M4L
c.10A>T
2 papers
NM_000217.3
p.N8K
c.24C>A
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