Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12

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
1–12 of 42 variants
3 papers
NM_207335.4
p.V601A
c.1802T>C
2 papers
NM_207335.4
p.Q22K
c.64C>A
2 papers
NM_207335.4
p.E192D
c.576G>C
2 papers
NM_207335.4
p.E192D
c.576G>T
2 papers
NM_207335.4
p.Q219H
c.657A>C
2 papers
NM_207335.4
p.Q219H
c.657A>T
2 papers
NM_207335.4
p.V304L
c.910G>C
2 papers
NM_207335.4
p.V304L
c.910G>T
2 papers
NM_207335.4
p.Y378C
c.1133A>G
2 papers
NM_207335.4
p.H561R
c.1682A>G
1 paper
NM_207335.4
p.S53fs
c.157_158fs
1 paper
NM_207335.4
p.S53delFs
c.159delC
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."