Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1

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
1–12 of 72 variants
2 papers
NM_002236.5
p.V145M
c.433G>A
2 papers
NM_002236.5
p.E158K
c.472G>A
2 papers
NM_002236.5
p.R446C
c.1336C>T
1 paper
NM_002236.5
p.E6K
c.16G>A
1 paper
NM_002236.5
p.E24V
c.71A>T
1 paper
NM_002236.5
p.L36L
c.108G>T
1 paper
NM_002236.5
p.Y37H
c.109T>C
1 paper
NM_002236.5
p.R48Q
c.143G>A
1 paper
NM_002236.5
p.L56M
c.166T>A
1 paper
NM_002236.5
p.Y60*
c.180C>A
1 paper
NM_002236.5
p.Y60*
c.180C>G
1 paper
NM_002236.5
p.D61N
c.181G>A
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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."