Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12
Variant:p.S53delFs

KBTBD12

45 papers

Pfam Domains

BTBaa 21–128UCSCBTB/POZ domain
BACKaa 133–235UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 377–597UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 12

HGNC Previous Symbol

KLHDC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207335.4
p.S53delFs
c.159delC
Surrounding Variants
1 paper
NM_207335.4
p.S53fs
c.157_158fs
2 papers
NM_207335.4
p.Q22K
c.64C>A
1 paper
NM_207335.4
p.I136F
c.406A>T
1 paper
NM_207335.4
p.E146G
c.437A>G
1 paper
NM_207335.4
p.R151*
c.451C>T
1 paper
NM_207335.4
p.Q158K
c.472C>A
1 paper
NM_207335.4
p.E173K
c.517G>A
2 papers
NM_207335.4
p.E192D
c.576G>C
2 papers
NM_207335.4
p.E192D
c.576G>T
1 paper
NM_207335.4
p.W201*
c.602G>A
1 paper
NM_207335.4
p.W201*
c.603G>A
1 paper
NM_207335.4
p.V214L
c.640G>C
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