Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.P437S

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.P437S
c.1309C>T
Surrounding Variants
1 paper
NM_133497.4
p.S438_F441del4
c.1312_1322del12
1 paper
NM_133497.4
p.D435N
c.1303G>A
3 papers
NM_133497.4
p.T439I
c.1316C>T
1 paper
NM_133497.4
p.S431F
c.1292C>T
1 paper
NM_133497.4
p.I444T
c.1331T>C
1 paper
NM_133497.4
p.H446insFs
c.1336dupC
1 paper
NM_133497.4
p.P445_H446del2
c.1333_1337del6
1 paper
NM_133497.4
p.I444I
c.1332C>T
1 paper
NM_133497.4
p.A428D
c.1283C>A
2 papers
NM_133497.4
p.H446fs
c.1336_1337fs
2 papers
NM_133497.4
p.S447_W449del3
c.1339_1346del9
1 paper
NM_133497.4
p.W448L
c.1343G>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."