Varaico: Literature-Extracted Genetic Variants

Gene:BTBD2
Variant:p.I245I

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.I245I
c.735C>T
Surrounding Variants
1 paper
NM_017797.4
p.C241C
c.723C>T
1 paper
NM_017797.4
p.F232F
c.696C>T
1 paper
NM_017797.4
p.I245_T259del15
c.733_776del45
1 paper
NM_017797.4
p.R288C
c.862C>T
1 paper
NM_017797.4
p.L225_L226insFs
c.675_676ins7
1 paper
NM_017797.4
p.K199E
c.595A>G
1 paper
NM_017797.4
p.E188Q
c.562G>C
1 paper
NM_017797.4
p.E182K
c.544G>A
1 paper
NM_017797.4
p.E341K
c.1021G>A
1 paper
NM_017797.4
p.F359F
c.1077C>T
1 paper
NM_017797.4
p.R364H
c.1091G>A
1 paper
NM_017797.4
p.G369E
c.1106G>A
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