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.F831_V833del3

c.2491_2498del9

Surrounding Variants

1 paper

NM_014109.4

p.P828_V833del6

c.2482_2498del18

1 paper

NM_014109.4

p.L825_V833del9

c.2473_2498del27

1 paper

NM_014109.4

p.V833_S834insTGA

c.2497_2501ins9

1 paper

NM_014109.4

p.V833_S834ins6

c.2497_2501ins18

1 paper

NM_014109.4

p.P828S

c.2482C>T

1 paper

NM_014109.4

p.K819R

c.2456A>G

1 paper

NM_014109.4

p.S807_E818del12

c.2419_2453del36

1 paper

NM_014109.4

p.L809_A810ins6

c.2425_2429ins18

1 paper

NM_014109.4

p.P793Q

c.2378C>A

2 papers

NM_014109.4

p.R792*

c.2374C>T

1 paper

NM_014109.4

p.G762G

c.2286A>G

1 paper

NM_014109.4

p.D752G

c.2255A>G