Varaico: Literature-Extracted Genetic Variants

ATAD2B

88 papers

RefSeq Summary

The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites,...

Pfam Domains

AAAaa 437–572UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 595–638UCSCAAA+ lid domain

Bromodomainaa 967–1048UCSCBromodomain

Gene Aliases

HGNC Name

ATPase family AAA domain containing 2B

HGNC Alias Symbol

KIAA1240

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017552.4

p.A51V

c.152C>T

Surrounding Variants

1 paper

NM_017552.4

p.G60fs

c.178_179fs

1 paper

NM_017552.4

p.S40F

c.119C>T

1 paper

NM_017552.4

p.S8S

c.24T>A

1 paper

NM_017552.4

p.M1K

c.2T>A