Varaico: Literature-Extracted Genetic Variants

Gene:KCTD17
Variant:p.L92insFs

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.L92insFs
c.274_275insC
Surrounding Variants
2 papers
NM_001282684.2
p.R86insFs
c.256dupC
1 paper
NM_001282684.2
p.R86delFs
c.256delC
2 papers
NM_001282684.2
p.G100A
c.299G>C
1 paper
NM_001282684.2
p.R73_D74delFs
c.219_220delTG
1 paper
NM_001282684.2
p.W25*
c.75G>A
1 paper
NM_001282684.2
p.W25*
c.74G>A
2 papers
NM_001282684.2
p.G100A
c.299G>C
1 paper
NM_001282684.2
p.Q130_V131Splc
c.390+1G>A
1 paper
NM_001282684.2
p.Q130_V131Splc
c.390+1G>C
1 paper
NM_001282684.2
p.Q130_V131Splc
c.390+1G>T
1 paper
NM_001282684.2
p.Q143ins1
c.427_428insAGG
1 paper
NM_001282684.2
p.G157delFs
c.471delC
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