Varaico: Literature-Extracted Genetic Variants

Gene:BTBD1

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
1–12 of 35 variants
1 paper
NM_025238.4
p.M1insFs
c.2dupT
1 paper
NM_025238.4
p.P25T
c.73C>A
1 paper
NM_025238.4
p.L38P
c.113T>C
1 paper
NM_025238.4
p.P44T
c.130C>A
1 paper
NM_025238.4
p.S69S
c.207C>T
1 paper
NM_025238.4
p.A81G
c.242C>G
1 paper
NM_025238.4
p.G86D
c.257G>A
1 paper
NM_025238.4
p.A92T
c.274G>A
1 paper
NM_025238.4
p.F95V
c.283T>G
1 paper
NM_025238.4
p.V103G
c.308T>G
1 paper
NM_025238.4
p.Q186_A187Splc
c.558+3A>G
1 paper
NM_025238.4
p.L189I
c.565T>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."