Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.N279K

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.N279K
c.837C>A
Surrounding Variants
1 paper
NM_000217.3
p.N279K
c.837C>G
1 paper
NM_000217.3
p.K281N
c.843G>T
1 paper
NM_000217.3
p.G282G
c.846C>T
1 paper
NM_000217.3
p.Q276R
c.827A>G
15 papers
NM_000217.3
p.E283K
c.847G>A
1 paper
NM_000217.3
p.E275D
c.825G>C
1 paper
NM_000217.3
p.E275D
c.825G>T
1 paper
NM_000217.3
p.Q284*
c.850C>T
1 paper
NM_000217.3
p.T286A
c.856A>G
1 paper
NM_000217.3
p.L288Q
c.863T>A
1 paper
NM_000217.3
p.L269_G270delFs
c.807_808delGG
1 paper
NM_000217.3
p.L269fs
c.805_806fs
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