Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7

KCTD7

136 papers

RefSeq Summary

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar t...

Pfam Domains

BTB_2aa 53–141UCSCBTB/POZ domain
KCTD_Caa 151–288UCSCKCTD C-terminal domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 7

HGNC Alias Symbols

FLJ32069; EPM3; CLN14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 181 variants
22 papers
NM_153033.5
p.R184C
c.550C>T
21 papers
NM_153033.5
p.R94W
c.280C>T
16 papers
NM_153033.5
p.R99*
c.295C>T
15 papers
NM_153033.5
p.R84W
c.250C>T
13 papers
NM_153033.5
p.L108M
c.322C>A
11 papers
NM_153033.5
p.N273I
c.818A>T
9 papers
NM_153033.5
p.T64A
c.190A>G
9 papers
NM_153033.5
p.D115Y
c.343G>T
9 papers
NM_153033.5
p.A178V
c.533C>T
8 papers
NM_153033.5
p.R112C
c.334C>T
8 papers
NM_153033.5
p.D229Y
c.685G>T
8 papers
NM_153033.5
p.Y276C
c.827A>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."