Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I177L

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.I177L
c.529A>C
Surrounding Variants
1 paper
NM_000217.3
p.I177V
c.529A>G
16 papers
NM_000217.3
p.I177N
c.530T>A
1 paper
NM_000217.3
p.I177S
c.530T>G
1 paper
NM_000217.3
p.I177_L178del2
c.529_533del6
1 paper
NM_000217.3
p.I179M
c.537C>G
3 papers
NM_000217.3
p.V174A
c.521T>C
2 papers
NM_000217.3
p.V174I
c.520G>A
24 papers
NM_000217.3
p.V174F
c.520G>T
1 paper
NM_000217.3
p.S180P
c.538T>C
2 papers
NM_000217.3
p.S173F
c.518C>T
1 paper
NM_000217.3
p.V172_S173insFs
c.516_517insT
1 paper
NM_000217.3
p.V172A
c.515T>C
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