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.F468delFs

c.1404delA

Surrounding Variants

1 paper

NM_017552.4

p.A466V

c.1397C>T

1 paper

NM_017552.4

p.D462G

c.1385A>G

1 paper

NM_017552.4

p.L476F

c.1428G>T

1 paper

NM_017552.4

p.L476F

c.1428G>C

1 paper

NM_017552.4

p.E457K

c.1369G>A

1 paper

NM_017552.4

p.P433L

c.1298C>T

1 paper

NM_017552.4

p.Q432*

c.1294C>T

1 paper

NM_017552.4

p.P419Q

c.1256C>A

1 paper

NM_017552.4

p.M391I

c.1173G>T

1 paper

NM_017552.4

p.M391I

c.1173G>C

1 paper

NM_017552.4

p.M391I

c.1173G>A

1 paper

NM_017552.4

p.A383S

c.1147G>T