Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R112H

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
3 papers
NM_153033.5
p.R112H
c.335G>A
Surrounding Variants
1 paper
NM_153033.5
p.R112P
c.335G>C
8 papers
NM_153033.5
p.R112C
c.334C>T
3 papers
NM_153033.5
p.S113P
c.337T>C
2 papers
NM_153033.5
p.S113_G114delFs
c.339_340delAG
1 paper
NM_153033.5
p.G114R
c.340G>A
1 paper
NM_153033.5
p.G114R
c.340G>C
1 paper
NM_153033.5
p.G114W
c.340G>T
3 papers
NM_153033.5
p.G114E
c.341G>A
9 papers
NM_153033.5
p.D115Y
c.343G>T
2 papers
NM_153033.5
p.D115fs
c.343_344fs
2 papers
NM_153033.5
p.L116del1
c.346_347delCTC
13 papers
NM_153033.5
p.L108M
c.322C>A
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