Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.F303V

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
12 papers
NM_000217.3
p.F303V
c.907T>G
Surrounding Variants
1 paper
NM_000217.3
p.F303L
c.907T>C
1 paper
NM_000217.3
p.I302L
c.904A>C
1 paper
NM_000217.3
p.K304R
c.911A>G
1 paper
NM_000217.3
p.R301K
c.902G>A
1 paper
NM_000217.3
p.R301I
c.902G>T
1 paper
NM_000217.3
p.R301G
c.901A>G
1 paper
NM_000217.3
p.L305I
c.913C>A
13 papers
NM_000217.3
p.L305F
c.913C>T
1 paper
NM_000217.3
p.L305P
c.914T>C
1 paper
NM_000217.3
p.S306C
c.917C>G
1 paper
NM_000217.3
p.S306F
c.917C>T
2 papers
NM_000217.3
p.R307S
c.919C>A
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