Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R153L

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.R153L
c.458G>T
Surrounding Variants
7 papers
NM_153033.5
p.R153H
c.458G>A
2 papers
NM_153033.5
p.R153P
c.458G>C
1 paper
NM_153033.5
p.Q154_A155del1
c.461_463delAAG
4 papers
NM_153033.5
p.V152V
c.456G>A
1 paper
NM_153033.5
p.V152M
c.454G>A
1 paper
NM_153033.5
p.G149D
c.446G>A
3 papers
NM_153033.5
p.L147P
c.440T>C
1 paper
NM_153033.5
p.Q145P
c.434A>C
3 papers
NM_153033.5
p.Q145R
c.434A>G
1 paper
NM_153033.5
p.M144V
c.430A>G
1 paper
NM_153033.5
p.E142fs
c.424_425fs
1 paper
NM_153033.5
p.D165Splc
c.493+1G>A
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