Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2

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
1–12 of 379 variants
27 papers
NM_133497.4
p.G461R
c.1381G>A
25 papers
NM_133497.4
p.G461R
c.1381G>C
23 papers
NM_133497.4
p.E143*
c.427G>T
21 papers
NM_133497.4
p.K260*
c.778A>T
13 papers
NM_133497.4
p.K3_Q4delFs
c.8_11del4
13 papers
NM_133497.4
p.A261D
c.782C>A
11 papers
NM_133497.4
p.Q109*
c.325C>T
9 papers
NM_133497.4
p.R27H
c.80G>A
9 papers
NM_133497.4
p.E148*
c.442G>T
9 papers
NM_133497.4
p.M285R
c.854T>G
8 papers
NM_133497.4
p.Q145*
c.433C>T
7 papers
NM_133497.4
p.K3*
c.7A>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."