Varaico: Literature-Extracted Genetic Variants

Gene:KCNN1
Variant:p.R306insFs

KCNN1

112 papers

RefSeq Summary

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Ea...

Pfam Domains

SK_channelaa 92–208UCSCCalcium-activated SK potassium channel
Ion_trans_2aa 284–371UCSCIon channel
CaMBDaa 384–461UCSCCalmodulin binding domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily N member 1

HGNC Alias Symbols

KCa2.1; hSK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001386974.1
p.R306insFs
c.916dupA
Surrounding Variants
2 papers
NM_001386974.1
p.R302P
c.905G>C
1 paper
NM_001386974.1
p.T300T
c.900C>G
1 paper
NM_001386974.1
p.A298A
c.894C>T
1 paper
NM_001386974.1
p.I295V
c.883A>G
1 paper
NM_001386974.1
p.S290C
c.868A>T
1 paper
NM_001386974.1
p.V288V
c.864C>T
1 paper
NM_001386974.1
p.P282S
c.844C>T
1 paper
NM_001386974.1
p.M278I
c.834G>T
1 paper
NM_001386974.1
p.K275K
c.825G>A
1 paper
NM_001386974.1
p.N269K
c.807C>A
1 paper
NM_001386974.1
p.N264K
c.792C>A
1 paper
NM_001386974.1
p.A262D
c.785C>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."