Varaico: Literature-Extracted Genetic Variants

Gene:BTBD1
Variant:p.R254R

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.R254R
c.762A>G
Surrounding Variants
1 paper
NM_025238.4
p.P258A
c.772C>G
1 paper
NM_025238.4
p.P258T
c.772C>A
1 paper
NM_025238.4
p.R246C
c.736C>T
1 paper
NM_025238.4
p.V244I
c.730G>A
1 paper
NM_025238.4
p.K266fs
c.796_797fs
1 paper
NM_025238.4
p.K266delFs
c.797_798delTT
1 paper
NM_025238.4
p.L268P
c.803T>C
1 paper
NM_025238.4
p.M280L
c.838A>T
1 paper
NM_025238.4
p.M280L
c.838A>C
1 paper
NM_025238.4
p.I219delFs
c.655delT
1 paper
NM_025238.4
p.I219fs
c.655_656fs
1 paper
NM_025238.4
p.M208I
c.624G>T
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