Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.L77delFs

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.L77delFs
c.229_230delTT
Surrounding Variants
1 paper
NM_153033.5
p.L77fs
c.229_230fs
1 paper
NM_153033.5
p.T75delFs
c.224delC
1 paper
NM_153033.5
p.M80T
c.239T>C
1 paper
NM_153033.5
p.Y72*
c.216C>A
1 paper
NM_153033.5
p.Y72*
c.216C>G
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.G83delFs
c.249delG
1 paper
NM_153033.5
p.G83R
c.247G>A
6 papers
NM_153033.5
p.R70W
c.208C>T
15 papers
NM_153033.5
p.R84W
c.250C>T
1 paper
NM_153033.5
p.R84fs
c.250_251fs
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