Varaico: Literature-Extracted Genetic Variants

Gene:KCTD3
Variant:p.N23N

KCTD3

69 papers

RefSeq Summary

This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In...

Pfam Domains

BTB_2aa 20–109UCSCBTB/POZ domain
BTB_2aa 20–109UCSCBTB/POZ domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 3

HGNC Alias Symbol

NY-REN-45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016121.5
p.N23N
c.69C>T
Surrounding Variants
1 paper
NM_016121.5
p.A13V
c.38C>T
1 paper
NM_016121.5
p.R33I
c.98G>T
1 paper
NM_016121.5
p.P40P
c.120A>T
1 paper
NM_016121.5
p.S42F
c.125C>T
1 paper
NM_016121.5
p.S46Splc
c.138-52T>A
1 paper
NM_016121.5
p.L48fs
c.142_143fs
6 papers
NM_016121.5
p.R56*
c.166C>T
1 paper
NM_016121.5
p.G60S
c.178G>A
1 paper
NM_016121.5
p.I62I
c.186A>C
1 paper
NM_016121.5
p.A70T
c.208G>A
1 paper
NM_016121.5
p.P73delFs
c.217delC
1 paper
NM_016121.5
p.R86Splc
c.257+4A>G
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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."