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

1–12 of 33 variants

3 papers

NM_001099272.2

p.R342*

c.1024C>T

2 papers

NM_001099272.2

p.W360R

c.1078T>C

2 papers

NM_001099272.2

p.W360R

c.1078T>A

2 papers

NM_001172418.2

p.R339*

c.1015C>T

1 paper

NM_001099272.2

p.R8C

c.22C>T

1 paper

NM_001099272.2

p.V13L

c.37G>T

1 paper

NM_001099272.2

p.V13L

c.37G>C

1 paper

NM_001099272.2

p.E15K

c.43G>A

1 paper

NM_001099272.2

p.E34E

c.102A>G

1 paper

NM_001099272.2

p.V41M

c.121G>A

1 paper

NM_001099272.2

p.R46C

c.136C>T

1 paper

NM_001099272.2

p.Q73H

c.219G>T