Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I400V

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
10 papers
NM_000217.3
p.I400V
c.1198A>G
Surrounding Variants
1 paper
NM_000217.3
p.T399delFs
c.1196delC
1 paper
NM_000217.3
p.A401T
c.1201G>A
6 papers
NM_000217.3
p.A401V
c.1202C>T
1 paper
NM_000217.3
p.L398I
c.1192C>A
2 papers
NM_000217.3
p.L398V
c.1192C>G
1 paper
NM_000217.3
p.P403T
c.1207C>A
3 papers
NM_000217.3
p.P403A
c.1207C>G
11 papers
NM_000217.3
p.P403S
c.1207C>T
1 paper
NM_000217.3
p.P403P
c.1209C>T
5 papers
NM_000217.3
p.G396V
c.1187G>T
27 papers
NM_000217.3
p.V404I
c.1210G>A
4 papers
NM_000217.3
p.G396R
c.1186G>C
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