Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.M463T

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
1 paper
NM_133497.4
p.M463T
c.1388T>C
Surrounding Variants
1 paper
NM_133497.4
p.D462D
c.1386C>T
27 papers
NM_133497.4
p.G461R
c.1381G>A
25 papers
NM_133497.4
p.G461R
c.1381G>C
5 papers
NM_133497.4
p.G461*
c.1381G>T
1 paper
NM_133497.4
p.Y460_G461insCG
c.1378_1382ins6
1 paper
NM_133497.4
p.Y460_G461insCG*
c.1378_1382ins9
7 papers
NM_133497.4
p.G459D
c.1376G>A
1 paper
NM_133497.4
p.G459C
c.1375G>T
3 papers
NM_133497.4
p.H468fs
c.1402_1403fs
6 papers
NM_133497.4
p.H468delFs
c.1404delC
1 paper
NM_133497.4
p.L469fs
c.1405_1406fs
1 paper
NM_133497.4
p.G470S
c.1408G>A
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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."