Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.L271H

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
5 papers
NM_153033.5
p.L271H
c.812T>A
Surrounding Variants
11 papers
NM_153033.5
p.N273I
c.818A>T
8 papers
NM_153033.5
p.Y276C
c.827A>G
1 paper
NM_153033.5
p.C277_R279Fs
c.829_836delinsCCTFs
1 paper
NM_153033.5
p.C277Y
c.830G>A
1 paper
NM_153033.5
p.G265R
c.793G>A
1 paper
NM_153033.5
p.G265R
c.793G>C
1 paper
NM_153033.5
p.K278fs
c.832_833fs
3 papers
NM_153033.5
p.R279C
c.835C>T
1 paper
NM_153033.5
p.C263S
c.788G>C
1 paper
NM_153033.5
p.P280delFs
c.840delC
1 paper
NM_153033.5
p.C263S
c.787T>A
1 paper
NM_153033.5
p.I281fs
c.841_842fs
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."