Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R418T

KCNT1

454 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Gene Aliases

HGNC Name

potassium sodium-activated channel subfamily T member 1

HGNC Alias Symbols

KCa4.1; KIAA1422; SLACK; Slo2.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020822.3
p.R418T
c.1253G>C
Surrounding Variants
1 paper
NM_020822.3
p.L420_P423insFs
c.1260_1269dup10
1 paper
NM_020822.3
p.P423S
c.1267C>T
1 paper
NM_020822.3
p.L424fs
c.1270_1271fs
1 paper
NM_020822.3
p.M412I
c.1236G>A
1 paper
NM_020822.3
p.M412I
c.1236G>C
1 paper
NM_020822.3
p.M412I
c.1236G>T
9 papers
NM_020822.3
p.P409S
c.1225C>T
2 papers
NM_020822.3
p.R428G
c.1282C>G
1 paper
NM_020822.3
p.R428W
c.1282C>T
1 paper
NM_020822.3
p.P409_E411del3
c.1225_1232del9
68 papers
NM_020822.3
p.R428Q
c.1283G>A
1 paper
NM_020822.3
p.V429A
c.1286T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."