Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.G219R

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
1 paper
NM_153033.5
p.G219R
c.655G>C
Surrounding Variants
1 paper
NM_153033.5
p.G219R
c.655G>A
1 paper
NM_153033.5
p.D218D
c.654C>T
1 paper
NM_153033.5
p.Q220P
c.659A>C
2 papers
NM_153033.5
p.R214W
c.640C>T
5 papers
NM_153033.5
p.R211*
c.631C>T
1 paper
NM_153033.5
p.E227*
c.679G>T
1 paper
NM_153033.5
p.D229_V230del2
c.685_689del6
2 papers
NM_153033.5
p.L210P
c.629T>C
1 paper
NM_153033.5
p.V228L
c.682G>T
8 papers
NM_153033.5
p.D229Y
c.685G>T
3 papers
NM_153033.5
p.F232delFs
c.696delT
6 papers
NM_153033.5
p.F232fs
c.694_695fs
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