Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.F414C

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
15 papers
NM_000217.3
p.F414C
c.1241T>G
Surrounding Variants
9 papers
NM_000217.3
p.F414S
c.1241T>C
1 paper
NM_000217.3
p.H416P
c.1247A>C
1 paper
NM_000217.3
p.N412I
c.1235A>T
1 paper
NM_000217.3
p.R417R
c.1249C>A
8 papers
NM_000217.3
p.R417*
c.1249C>T
1 paper
NM_000217.3
p.R417Q
c.1250G>A
1 paper
NM_000217.3
p.E418_E420del0
c.1254_1259del6
2 papers
NM_000217.3
p.E418A
c.1253A>C
1 paper
NM_000217.3
p.N410T
c.1229A>C
1 paper
NM_000217.3
p.T419A
c.1255A>G
1 paper
NM_000217.3
p.E420Q
c.1258G>C
1 paper
NM_000217.3
p.E420A
c.1259A>C
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