Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.G105E

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
Selected Variant
3 papers
NM_153033.5
p.G105E
c.314G>A
Surrounding Variants
1 paper
NM_153033.5
p.G101delFs
c.302_303delGC
1 paper
NM_153033.5
p.G101_T102del2
c.301_305del6
1 paper
NM_153033.5
p.D100H
c.298G>C
16 papers
NM_153033.5
p.R99*
c.295C>T
1 paper
NM_153033.5
p.D98N
c.292G>A
2 papers
NM_153033.5
p.Y95F
c.284A>T
2 papers
NM_153033.5
p.R94Q
c.281G>A
1 paper
NM_153033.5
p.R94L
c.281G>T
1 paper
NM_153033.5
p.R94G
c.280C>G
21 papers
NM_153033.5
p.R94W
c.280C>T
1 paper
NM_153033.5
p.G105Splc
c.314+51G>A
2 papers
NM_153033.5
p.Y86C
c.257A>G
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."