Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12
Variant:p.C428Y

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.C428Y
c.1283G>A
Surrounding Variants
1 paper
NM_207335.4
p.A430G
c.1289C>G
1 paper
NM_207335.4
p.V411A
c.1232T>C
2 papers
NM_207335.4
p.Y378C
c.1133A>G
1 paper
NM_207335.4
p.R375*
c.1123C>T
1 paper
NM_207335.4
p.E454*
c.1360G>T
1 paper
NM_207335.4
p.Q464*
c.1390C>T
1 paper
NM_207335.4
p.Y480H
c.1438T>C
1 paper
NM_207335.4
p.K349R
c.1046A>G
1 paper
NM_207335.4
p.N332T
c.995A>C
1 paper
NM_207335.4
p.K315N
c.945G>C
1 paper
NM_207335.4
p.K315N
c.945G>T
1 paper
NM_207335.4
p.T308T
c.924C>T
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