Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD12
Variant:p.V601A

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
3 papers
NM_207335.4
p.V601A
c.1802T>C
Surrounding Variants
1 paper
NM_207335.4
p.R607*
c.1819C>T
1 paper
NM_207335.4
p.R607Q
c.1820G>A
1 paper
NM_207335.4
p.N589S
c.1766A>G
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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."