Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.I192F

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.I192F
c.574A>T
Surrounding Variants
1 paper
NM_002236.5
p.V194F
c.580G>T
1 paper
NM_002236.5
p.V194G
c.581T>G
1 paper
NM_002236.5
p.L187L
c.561C>G
1 paper
NM_002236.5
p.R182R
c.546G>A
1 paper
NM_002236.5
p.R182W
c.544C>T
1 paper
NM_002236.5
p.G202R
c.604G>C
1 paper
NM_002236.5
p.P175delFs
c.523delC
1 paper
NM_002236.5
p.E173*
c.517G>T
1 paper
NM_002236.5
p.E213*
c.637G>T
1 paper
NM_002236.5
p.V217M
c.649G>A
1 paper
NM_002236.5
p.R163C
c.487C>T
2 papers
NM_002236.5
p.E158K
c.472G>A
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