Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.T250delFs

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.T250delFs
c.750delG
Surrounding Variants
1 paper
NM_153033.5
p.T250T
c.750G>A
1 paper
NM_153033.5
p.D251fs
c.751_752fs
1 paper
NM_153033.5
p.V249G
c.746T>G
1 paper
NM_153033.5
p.L252V
c.754C>G
1 paper
NM_153033.5
p.L252F
c.754C>T
1 paper
NM_153033.5
p.S253del1
c.757_759delTCG
1 paper
NM_153033.5
p.A254P
c.760G>C
1 paper
NM_153033.5
p.Q255_Q262del0
c.765_785del21
1 paper
NM_153033.5
p.D243N
c.727G>A
1 paper
NM_153033.5
p.V259M
c.775G>A
3 papers
NM_153033.5
p.V259E
c.776T>A
1 paper
NM_153033.5
p.A239del1
c.715_717delGCT
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