Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.I199fs

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.I199fs
c.595_596fs
Surrounding Variants
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
1 paper
NM_153033.5
p.P205_F212del8
c.613_635del24
2 papers
NM_153033.5
p.P205L
c.614C>T
1 paper
NM_153033.5
p.L188L
c.564C>G
1 paper
NM_153033.5
p.L188V
c.562C>G
1 paper
NM_153033.5
p.L188F
c.562C>T
2 papers
NM_153033.5
p.L210P
c.629T>C
5 papers
NM_153033.5
p.R211*
c.631C>T
1 paper
NM_153033.5
p.F185fs
c.553_554fs
4 papers
NM_153033.5
p.R184H
c.551G>A
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