Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.F256C

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.F256C
c.767T>G
Surrounding Variants
1 paper
NM_000217.3
p.F256Y
c.767T>A
1 paper
NM_000217.3
p.F256V
c.766T>G
13 papers
NM_000217.3
p.N255K
c.765C>A
12 papers
NM_000217.3
p.N255K
c.765C>G
2 papers
NM_000217.3
p.N255T
c.764A>C
1 paper
NM_000217.3
p.N255H
c.763A>C
27 papers
NM_000217.3
p.N255D
c.763A>G
1 paper
NM_000217.3
p.N255_D258del0
c.765_773del9
1 paper
NM_000217.3
p.N255_I257del3
c.763_770del9
1 paper
NM_000217.3
p.I253V
c.757A>G
1 paper
NM_000217.3
p.I253F
c.757A>T
1 paper
NM_000217.3
p.N252S
c.755A>G
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