Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12
Variant:p.L554F

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.L554F
c.1660C>T
Surrounding Variants
2 papers
NM_207335.4
p.H561R
c.1682A>G
1 paper
NM_207335.4
p.R541C
c.1621C>T
1 paper
NM_207335.4
p.P534P
c.1602A>G
1 paper
NM_207335.4
p.E529G
c.1586A>G
1 paper
NM_207335.4
p.R528*
c.1582C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."