Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12
Variant:p.V304L

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
2 papers
NM_207335.4
p.V304L
c.910G>T
Surrounding Variants
2 papers
NM_207335.4
p.V304L
c.910G>C
1 paper
NM_207335.4
p.T308T
c.924C>T
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.N332T
c.995A>C
1 paper
NM_207335.4
p.K349R
c.1046A>G
1 paper
NM_207335.4
p.D243N
c.727G>A
1 paper
NM_207335.4
p.A233V
c.698C>T
2 papers
NM_207335.4
p.Q219H
c.657A>C
2 papers
NM_207335.4
p.Q219H
c.657A>T
1 paper
NM_207335.4
p.V214L
c.640G>C
1 paper
NM_207335.4
p.W201*
c.603G>A
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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."