Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I262T

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
17 papers
NM_000217.3
p.I262T
c.785T>C
Surrounding Variants
1 paper
NM_000217.3
p.I262L
c.784A>C
6 papers
NM_000217.3
p.I262M
c.786C>G
4 papers
NM_000217.3
p.I263T
c.788T>C
9 papers
NM_000217.3
p.A261T
c.781G>A
1 paper
NM_000217.3
p.P264delFs
c.791delC
1 paper
NM_000217.3
p.Y265H
c.793T>C
2 papers
NM_000217.3
p.Y265C
c.794A>G
1 paper
NM_000217.3
p.I267V
c.799A>G
3 papers
NM_000217.3
p.T268K
c.803C>A
1 paper
NM_000217.3
p.T268M
c.803C>T
1 paper
NM_000217.3
p.F256Y
c.767T>A
1 paper
NM_000217.3
p.F256C
c.767T>G
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