Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R84Q

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
5 papers
NM_153033.5
p.R84Q
c.251G>A
Surrounding Variants
15 papers
NM_153033.5
p.R84W
c.250C>T
1 paper
NM_153033.5
p.R84fs
c.250_251fs
1 paper
NM_153033.5
p.G83R
c.247G>A
2 papers
NM_153033.5
p.Y86H
c.256T>C
1 paper
NM_153033.5
p.G83delFs
c.249delG
2 papers
NM_153033.5
p.Y86C
c.257A>G
1 paper
NM_153033.5
p.M80T
c.239T>C
1 paper
NM_153033.5
p.L77fs
c.229_230fs
1 paper
NM_153033.5
p.L77delFs
c.229_230delTT
1 paper
NM_153033.5
p.T75delFs
c.224delC
1 paper
NM_153033.5
p.R94G
c.280C>G
21 papers
NM_153033.5
p.R94W
c.280C>T
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