Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.W365R

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.W365R
c.1093T>A
Surrounding Variants
1 paper
NM_000217.3
p.W365R
c.1093T>C
1 paper
NM_000217.3
p.W365C
c.1095G>C
1 paper
NM_000217.3
p.W365C
c.1095G>T
1 paper
NM_000217.3
p.A366T
c.1096G>A
1 paper
NM_000217.3
p.A366A
c.1098G>A
1 paper
NM_000217.3
p.A362T
c.1084G>A
11 papers
NM_000217.3
p.V368L
c.1102G>C
11 papers
NM_000217.3
p.V368L
c.1102G>T
2 papers
NM_000217.3
p.D361N
c.1081G>A
4 papers
NM_000217.3
p.S369T
c.1105T>A
1 paper
NM_000217.3
p.T371A
c.1111A>G
1 paper
NM_000217.3
p.T371N
c.1112C>A
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