Varaico: Literature-Extracted Genetic Variants

Gene:KCTD3
Variant:p.V92I

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
2 papers
NM_016121.5
p.V92I
c.274G>A
Surrounding Variants
1 paper
NM_016121.5
p.E98G
c.293A>G
1 paper
NM_016121.5
p.I102S
c.305T>G
1 paper
NM_016121.5
p.L110L
c.330C>A
1 paper
NM_016121.5
p.L111*
c.332T>A
1 paper
NM_016121.5
p.L111*
c.332T>G
1 paper
NM_016121.5
p.E113delFs
c.339delA
2 papers
NM_016121.5
p.E116K
c.346G>A
2 papers
NM_016121.5
p.R117C
c.349C>T
1 paper
NM_016121.5
p.R117H
c.350G>A
1 paper
NM_016121.5
p.R117P
c.350G>C
1 paper
NM_016121.5
p.R117L
c.350G>T
1 paper
NM_016121.5
p.S119F
c.356C>T
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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."