Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.S435N

KCNF1

76 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 25–126UCSCBTB/POZ domain
Ion_transaa 181–417UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily F member 1

HGNC Alias Symbols

Kv5.1; kH1; IK8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002236.5
p.S435N
c.1304G>A
Surrounding Variants
1 paper
NM_002236.5
p.E431K
c.1291G>A
1 paper
NM_002236.5
p.G443insFs
c.1329dupG
2 papers
NM_002236.5
p.R446C
c.1336C>T
1 paper
NM_002236.5
p.A422V
c.1265C>T
1 paper
NM_002236.5
p.T421I
c.1262C>T
1 paper
NM_002236.5
p.N408Fs
c.1222delinsTAFs
1 paper
NM_002236.5
p.H403Y
c.1207C>T
1 paper
NM_002236.5
p.L468delFs
c.1402delC
1 paper
NM_002236.5
p.I389T
c.1166T>C
1 paper
NM_002236.5
p.E482K
c.1444G>A
1 paper
NM_002236.5
p.H486insFs
c.1457_1458insG
1 paper
NM_002236.5
p.G383S
c.1147G>A
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