Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.N60fs

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.N60fs
c.178_179fs
Surrounding Variants
1 paper
NM_000217.3
p.N60S
c.179A>G
1 paper
NM_000217.3
p.P59_N60delFs
c.177_178delCA
1 paper
NM_000217.3
p.T61S
c.181A>T
1 paper
NM_000217.3
p.F58L
c.174C>A
1 paper
NM_000217.3
p.F58L
c.174C>G
1 paper
NM_000217.3
p.F58L
c.172T>C
1 paper
NM_000217.3
p.L62P
c.185T>C
1 paper
NM_000217.3
p.Q57L
c.170A>T
1 paper
NM_000217.3
p.A56A
c.168G>A
1 paper
NM_000217.3
p.G64D
c.191G>A
1 paper
NM_000217.3
p.L55P
c.164T>C
1 paper
NM_000217.3
p.K53N
c.159G>C
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