Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R474H

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
71 papers
NM_020822.3
p.R474H
c.1421G>A
Surrounding Variants
1 paper
NM_020822.3
p.R474L
c.1421G>T
1 paper
NM_020822.3
p.R474S
c.1420C>A
8 papers
NM_020822.3
p.R474G
c.1420C>G
38 papers
NM_020822.3
p.R474C
c.1420C>T
4 papers
NM_020822.3
p.W476R
c.1426T>A
4 papers
NM_020822.3
p.W476R
c.1426T>C
13 papers
NM_020822.3
p.A477T
c.1429G>A
1 paper
NM_020822.3
p.V478M
c.1432G>A
1 paper
NM_020822.3
p.H469P
c.1406A>C
9 papers
NM_020822.3
p.D480N
c.1438G>A
1 paper
NM_020822.3
p.D480G
c.1439A>G
1 paper
NM_001272003.2
p.K448I
c.1343A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."