Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.Y96F

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.Y96F
c.287A>T
Surrounding Variants
1 paper
NM_000217.3
p.Y96*
c.288C>A
1 paper
NM_000217.3
p.Y96*
c.288C>G
1 paper
NM_000217.3
p.Y96N
c.286T>A
1 paper
NM_000217.3
p.Q97K
c.289C>A
1 paper
NM_000217.3
p.G99S
c.295G>A
1 paper
NM_000217.3
p.G100R
c.298G>C
1 paper
NM_000217.3
p.I92V
c.274A>G
1 paper
NM_000217.3
p.R101S
c.301C>A
1 paper
NM_000217.3
p.R101R
c.303C>T
1 paper
NM_000217.3
p.A91delFs
c.272delC
2 papers
NM_000217.3
p.D90N
c.268G>A
1 paper
NM_000217.3
p.D90H
c.268G>C
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