Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.S289fs

KCNV2

226 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

BTB_2aa 99–198UCSCBTB/POZ domain
Ion_transaa 259–504UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily V member 2

HGNC Alias Symbol

Kv8.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_133497.4
p.S289fs
c.865_866fs
Surrounding Variants
2 papers
NM_133497.4
p.S289fs
c.865_866fs
3 papers
NM_133497.4
p.S289delFs
c.866delC
2 papers
NM_133497.4
p.S289*
c.866C>A
1 paper
NM_133497.4
p.S289W
c.866C>G
1 paper
NM_133497.4
p.G290delFs
c.870delG
1 paper
NM_133497.4
p.G292_D297insFs
c.874_889dup16
5 papers
NM_133497.4
p.Q287*
c.859C>T
2 papers
NM_133497.4
p.G292S
c.874G>A
1 paper
NM_133497.4
p.M285K
c.854T>A
9 papers
NM_133497.4
p.M285R
c.854T>G
2 papers
NM_133497.4
p.M285L
c.853A>C
2 papers
NM_133497.4
p.M285L
c.853A>T
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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."