Varaico: Literature-Extracted Genetic Variants

Gene:BTBD2
Variant:p.A169A

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
3 papers
NM_017797.4
p.A169A
c.507T>C
Surrounding Variants
1 paper
NM_017797.4
p.V166M
c.496G>A
4 papers
NM_017797.4
p.T157_E162del6
c.469_485del18
1 paper
NM_017797.4
p.N151_E162del12
c.451_485del36
1 paper
NM_017797.4
p.T159R
c.476C>G
1 paper
NM_017797.4
p.T157A
c.469A>G
1 paper
NM_017797.4
p.G153E
c.458G>A
1 paper
NM_017797.4
p.G152R
c.454G>C
1 paper
NM_017797.4
p.G152R
c.454G>A
1 paper
NM_017797.4
p.E182K
c.544G>A
1 paper
NM_017797.4
p.E188Q
c.562G>C
1 paper
NM_017797.4
p.K199E
c.595A>G
1 paper
NM_017797.4
p.L225_L226insFs
c.675_676ins7
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