Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R211*

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.R211*
c.631C>T
Surrounding Variants
2 papers
NM_153033.5
p.L210P
c.629T>C
2 papers
NM_153033.5
p.R214W
c.640C>T
2 papers
NM_153033.5
p.P205L
c.614C>T
1 paper
NM_153033.5
p.P205_F212del8
c.613_635del24
1 paper
NM_153033.5
p.D218D
c.654C>T
1 paper
NM_153033.5
p.G219R
c.655G>A
1 paper
NM_153033.5
p.G219R
c.655G>C
1 paper
NM_153033.5
p.Q220P
c.659A>C
1 paper
NM_153033.5
p.I199fs
c.595_596fs
1 paper
NM_153033.5
p.I199V
c.595A>G
1 paper
NM_153033.5
p.I199fs
c.595_596fs
3 papers
NM_153033.5
p.P198delFs
c.594delC
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