Varaico: Literature-Extracted Genetic Variants

Gene:BTBD2
Variant:p.G82_A87del6

BTBD2

45 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 107–217UCSCBTB/POZ domain
BACKaa 222–329UCSCBTB And C-terminal Kelch
PHRaa 375–524UCSCPHR domain

Gene Aliases

HGNC Name

BTB domain containing 2

HGNC Previous Name

BTB (POZ) domain containing 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017797.4
p.G82_A87del6
c.244_260del18
Surrounding Variants
1 paper
NM_017797.4
p.G82_A87del0
c.245_259del15
1 paper
NM_017797.4
p.A98insFs
c.292_293insC
1 paper
NM_017797.4
p.H120L
c.359A>T
1 paper
NM_017797.4
p.H120Q
c.360C>G
1 paper
NM_017797.4
p.H120Q
c.360C>A
4 papers
NM_017797.4
p.A53_A54del0
c.157_162del6
1 paper
NM_017797.4
p.A51_A54del0
c.151_162del12
1 paper
NM_017797.4
p.A54P
c.160G>C
1 paper
NM_017797.4
p.A53P
c.157G>C
1 paper
NM_017797.4
p.A53T
c.157G>A
1 paper
NM_017797.4
p.G124G
c.372C>G
1 paper
NM_017797.4
p.R136Splc
c.407+8C>T
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