Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Q522delFs

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.Q522delFs
c.1565_1566delAG
Surrounding Variants
1 paper
NM_133497.4
p.Q522fs
c.1564_1565fs
1 paper
NM_133497.4
p.N519K
c.1557C>G
1 paper
NM_133497.4
p.R512C
c.1534C>T
5 papers
NM_133497.4
p.L533V
c.1597C>G
2 papers
NM_133497.4
p.N536S
c.1607A>G
2 papers
NM_133497.4
p.L539P
c.1616T>C
1 paper
NM_133497.4
p.Y500*
c.1500C>A
1 paper
NM_133497.4
p.Y500*
c.1500C>G
1 paper
NM_133497.4
p.E544K
c.1630G>A
1 paper
NM_133497.4
p.E544Q
c.1630G>C
1 paper
NM_133497.4
p.N545del1
c.1633_1634delAAT
1 paper
NM_133497.4
p.D498_Y499insC
c.1492_1496ins3
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