Varaico: Literature-Extracted Genetic Variants

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

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

3 papers

NM_001099272.2

p.R342*

c.1024C>T

Surrounding Variants

1 paper

NM_001099272.2

p.R336Q

c.1007G>A

1 paper

NM_001099272.2

p.N333S

c.998A>G

1 paper

NM_001099272.2

p.Q328L

c.983A>T

1 paper

NM_001099272.2

p.S320F

c.959C>T

1 paper

NM_001099272.2

p.T300T

c.900T>C

1 paper

NM_001099272.2

p.L358F

c.1072C>T

2 papers

NM_001099272.2

p.W360R

c.1078T>C

2 papers

NM_001099272.2

p.W360R

c.1078T>A