Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R184delFs

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.R184delFs
c.552delC
Surrounding Variants
4 papers
NM_153033.5
p.R184H
c.551G>A
22 papers
NM_153033.5
p.R184C
c.550C>T
1 paper
NM_153033.5
p.F185fs
c.553_554fs
1 paper
NM_153033.5
p.A183V
c.548C>T
6 papers
NM_153033.5
p.R181W
c.541C>T
1 paper
NM_153033.5
p.L188V
c.562C>G
1 paper
NM_153033.5
p.L188F
c.562C>T
1 paper
NM_153033.5
p.L188L
c.564C>G
1 paper
NM_153033.5
p.Q180*
c.538C>T
3 papers
NM_153033.5
p.V179fs
c.535_536fs
9 papers
NM_153033.5
p.A178V
c.533C>T
1 paper
NM_153033.5
p.V179_R181delFs
c.536_543del8
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