Varaico: Literature-Extracted Genetic Variants

Gene:BTBD1
Variant:p.Q186_A187Splc

BTBD1

31 papers

RefSeq Summary

The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zin...

Pfam Domains

BTBaa 59–175UCSCBTB/POZ domain
BACKaa 180–287UCSCBTB And C-terminal Kelch
PHRaa 333–481UCSCPHR domain

Gene Aliases

HGNC Name

BTB domain containing 1

HGNC Previous Name

BTB (POZ) domain containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025238.4
p.Q186_A187Splc
c.558+3A>G
Surrounding Variants
1 paper
NM_025238.4
p.L189I
c.565T>A
1 paper
NM_025238.4
p.K205R
c.614A>G
1 paper
NM_025238.4
p.M208V
c.622A>G
1 paper
NM_025238.4
p.M208I
c.624G>T
1 paper
NM_025238.4
p.M208I
c.624G>C
1 paper
NM_025238.4
p.M208I
c.624G>A
1 paper
NM_025238.4
p.I219fs
c.655_656fs
1 paper
NM_025238.4
p.I219delFs
c.655delT
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."