Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R342S

KCNA5

333 papers

RefSeq Summary

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

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002234.4
p.R342S
c.1024C>A
Surrounding Variants
1 paper
NM_002234.4
p.R342L
c.1025G>T
1 paper
NM_002234.4
p.V341E
c.1022T>A
1 paper
NM_002234.4
p.V341M
c.1021G>A
1 paper
NM_002234.4
p.V341L
c.1021G>C
1 paper
NM_002234.4
p.V341L
c.1021G>T
1 paper
NM_002234.4
p.L340F
c.1018C>T
1 paper
NM_002234.4
p.P347S
c.1039C>T
1 paper
NM_002234.4
p.T336S
c.1007C>G
1 paper
NM_002234.4
p.T336S
c.1006A>T
1 paper
NM_002234.4
p.S348N
c.1043G>A
1 paper
NM_002234.4
p.K349E
c.1045A>G
1 paper
NM_002234.4
p.A350T
c.1048G>A
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."