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

3 papers

NM_014109.4

p.E278D

c.834A>T

Surrounding Variants

3 papers

NM_014109.4

p.E278D

c.834A>C

1 paper

NM_014109.4

p.E278delins

c.834delinsTGAA

1 paper

NM_014109.4

p.D276_E278ins1

c.828_833dup6

3 papers

NM_014109.4

p.D277_E278del1

c.831_833delTCA

1 paper

NM_014109.4

p.D276_E278del0

c.828_833del6

1 paper

NM_014109.4

p.D275_E278del0

c.825_833del9

1 paper

NM_014109.4

p.E278ins1

c.833_834insTGA

1 paper

NM_014109.4

p.E278ins2

c.833_834ins6

1 paper

NM_014109.4

p.D279E

c.837T>G

1 paper

NM_014109.4

p.D279E

c.837T>A

1 paper

NM_014109.4

p.D280E

c.840T>G

1 paper

NM_014109.4

p.D280E

c.840T>A