Varaico: Literature-Extracted Genetic Variants

ATAD2

128 papers

RefSeq Summary

A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this famil...

Pfam Domains

AAAaa 463–598UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 621–665UCSCAAA+ lid domain

Bromodomainaa 993–1070UCSCBromodomain

Gene Aliases

HGNC Name

ATPase family AAA domain containing 2

HGNC Alias Symbols

PRO2000; DKFZp667N1320; MGC5254; MGC29843; CT137; ANCCA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014109.4

p.D273E

c.819T>A

Surrounding Variants

1 paper

NM_014109.4

p.D273E

c.819T>G

1 paper

NM_014109.4

p.D269_D273del0

c.807_818del12

1 paper

NM_014109.4

p.D269_D273del5

c.805_818del15

2 papers

NM_014109.4

p.D275E

c.825T>G

2 papers

NM_014109.4

p.D275E

c.825T>A

1 paper

NM_014109.4

p.D276N

c.826G>A

1 paper

NM_014109.4

p.D270ins2

c.809_810ins6

2 papers

NM_014109.4

p.D270N

c.808G>A

1 paper

NM_014109.4

p.E278ins1

c.833_834insTGA

1 paper

NM_014109.4

p.E278ins2

c.833_834ins6

3 papers

NM_014109.4

p.E278D

c.834A>T

3 papers

NM_014109.4

p.E278D

c.834A>C