Varaico: Literature-Extracted Genetic Variants

Gene:KCTD17
Variant:p.G157delFs

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.G157delFs
c.471delC
Surrounding Variants
1 paper
NM_001282684.2
p.R159C
c.475C>T
1 paper
NM_001282684.2
p.Q143ins1
c.427_428insAGG
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
2 papers
NM_001282684.2
p.G100A
c.299G>C
1 paper
NM_001282684.2
p.I166delFs
c.497delT
1 paper
NM_001282684.2
p.S169_Y170del1
c.506_508delCCT
1 paper
NM_001282684.2
p.N171del1
c.511_512delAAC
1 paper
NM_001282684.2
p.V183delFs
c.547delG
1 paper
NM_001282684.2
p.K186delFs
c.557_558delAG
1 paper
NM_001282684.2
p.S190delFs
c.570delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."