Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.F232fs

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
6 papers
NM_153033.5
p.F232fs
c.694_695fs
Surrounding Variants
2 papers
NM_153033.5
p.F232fs
c.694_695fs
3 papers
NM_153033.5
p.F232delFs
c.696delT
8 papers
NM_153033.5
p.D229Y
c.685G>T
4 papers
NM_153033.5
p.W235S
c.704G>C
1 paper
NM_153033.5
p.V228L
c.682G>T
1 paper
NM_153033.5
p.E236G
c.707A>G
1 paper
NM_153033.5
p.D229_V230del2
c.685_689del6
1 paper
NM_153033.5
p.E227*
c.679G>T
1 paper
NM_153033.5
p.A239del1
c.715_717delGCT
1 paper
NM_153033.5
p.D243N
c.727G>A
1 paper
NM_153033.5
p.Q220P
c.659A>C
1 paper
NM_153033.5
p.G219R
c.655G>A
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