Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.F250del1

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
3 papers
NM_000217.3
p.F250del1
c.748_750delTTC
Surrounding Variants
21 papers
NM_000217.3
p.F249I
c.745T>A
2 papers
NM_000217.3
p.F249L
c.745T>C
1 paper
NM_000217.3
p.T247M
c.740C>T
7 papers
NM_000217.3
p.F249C
c.746T>G
2 papers
NM_000217.3
p.F249L
c.747C>A
2 papers
NM_000217.3
p.F249L
c.747C>G
1 paper
NM_000217.3
p.K246E
c.736A>G
1 paper
NM_000217.3
p.N252S
c.755A>G
1 paper
NM_000217.3
p.N252I
c.755A>T
22 papers
NM_000217.3
p.P244H
c.731C>A
1 paper
NM_000217.3
p.I253V
c.757A>G
1 paper
NM_000217.3
p.I253F
c.757A>T
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