Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.V98A

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.V98A
c.293T>C
Surrounding Variants
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.C108S
c.322T>A
1 paper
NM_002236.5
p.D84V
c.251A>T
1 paper
NM_002236.5
p.D80V
c.239A>T
1 paper
NM_002236.5
p.W116*
c.348G>A
1 paper
NM_002236.5
p.L120insFs
c.359_360ins4
1 paper
NM_002236.5
p.D68N
c.202G>A
1 paper
NM_002236.5
p.D61N
c.181G>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.E140delFs
c.420delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."