Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.T64A

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
9 papers
NM_153033.5
p.T64A
c.190A>G
Surrounding Variants
2 papers
NM_153033.5
p.L69_C71delFs
c.205_212del8
3 papers
NM_153033.5
p.L69V
c.205C>G
1 paper
NM_153033.5
p.L69fs
c.205_206fs
1 paper
NM_153033.5
p.G58G
c.174A>T
2 papers
NM_153033.5
p.L69P
c.206T>C
1 paper
NM_153033.5
p.G58A
c.173G>C
6 papers
NM_153033.5
p.R70W
c.208C>T
6 papers
NM_153033.5
p.G58R
c.172G>A
6 papers
NM_153033.5
p.G58R
c.172G>C
1 paper
NM_153033.5
p.C71fs
c.211_212fs
1 paper
NM_153033.5
p.C71fs
c.211_212fs
1 paper
NM_153033.5
p.Y72*
c.216C>A
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