Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.L120insFs

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.L120insFs
c.359_360ins4
Surrounding Variants
1 paper
NM_002236.5
p.W116*
c.348G>A
1 paper
NM_002236.5
p.C108S
c.322T>A
1 paper
NM_002236.5
p.E140delFs
c.420delG
1 paper
NM_002236.5
p.H99Q
c.297C>A
1 paper
NM_002236.5
p.H99Q
c.297C>G
1 paper
NM_002236.5
p.V98A
c.293T>C
2 papers
NM_002236.5
p.V145M
c.433G>A
1 paper
NM_002236.5
p.L152Q
c.455T>A
1 paper
NM_002236.5
p.A156T
c.466G>A
1 paper
NM_002236.5
p.D84V
c.251A>T
1 paper
NM_002236.5
p.A156V
c.467C>T
2 papers
NM_002236.5
p.E158K
c.472G>A
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