Varaico: Literature-Extracted Genetic Variants

Gene:KCTD17
Variant:p.Q214*

KCTD17

27 papers

RefSeq Summary

This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a subs...

Pfam Domains

BTB_2aa 26–117UCSCBTB/POZ domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 17

HGNC Alias Symbol

FLJ12242

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282684.2
p.Q214*
c.640C>T
Surrounding Variants
1 paper
NM_001282684.2
p.E219_V220del1
c.656_658delAGG
1 paper
NM_001282684.2
p.E212ins1
c.634_635insAGC
1 paper
NM_001282684.2
p.E217ins3
c.650_651ins9
1 paper
NM_001282684.2
p.E212del1
c.634_635delGAG
1 paper
NM_001282684.2
p.E219_V220del2
c.655_659del6
1 paper
NM_001282684.2
p.Q209_L210del1
c.626_628delAGC
1 paper
NM_001282684.2
p.E226K
c.676G>A
1 paper
NM_001282684.2
p.E226V
c.677A>T
1 paper
NM_001282684.2
p.V230M
c.688G>A
1 paper
NM_001282684.2
p.A238Splc
c.713-2A>C
1 paper
NM_001282684.2
p.L253del1
c.757_758delCTG
1 paper
NM_001282684.2
p.A278delFs
c.834delT
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