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.R123Splc

c.369-53C>T

Surrounding Variants

1 paper

NM_017552.4

p.Q127*

c.379C>T

1 paper

NM_017552.4

p.N134fs

c.400_401fs

1 paper

NM_017552.4

p.N134insFs

c.401dupA

1 paper

NM_017552.4

p.G138D

c.413G>A

1 paper

NM_017552.4

p.H144N

c.430C>A

1 paper

NM_017552.4

p.I159V

c.475A>G

1 paper

NM_017552.4

p.E164*

c.490G>T

1 paper

NM_017552.4

p.A195V

c.584C>T

1 paper

NM_017552.4

p.R218*

c.652C>T

1 paper

NM_017552.4

p.S255C

c.764C>G

1 paper

NM_017552.4

p.E114A

c.341A>C

1 paper

NM_017552.4

p.R112*

c.334C>T