Varaico: Literature-Extracted Genetic Variants

Gene:BTBD9
Variant:p.R339*

BTBD9

40 papers

RefSeq Summary

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with suscep...

Pfam Domains

BTBaa 28–137UCSCBTB/POZ domain
BTBaa 28–137UCSCBTB/POZ domain
BACKaa 142–240UCSCBTB And C-terminal Kelch
BACKaa 142–240UCSCBTB And C-terminal Kelch
F5_F8_type_Caa 284–405UCSCF5/8 type C domain
F5_F8_type_Caa 431–554UCSCF5/8 type C domain

Gene Aliases

HGNC Name

BTB domain containing 9

HGNC Alias Symbols

KIAA1880; dJ322I12.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001172418.2
p.R339*
c.1015C>T
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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."