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.R136I

c.407G>T

Surrounding Variants

1 paper

NM_014109.4

p.R131L

c.392G>T

1 paper

NM_014109.4

p.P128S

c.382C>T

1 paper

NM_014109.4

p.E153K

c.457G>A

1 paper

NM_014109.4

p.S170F

c.509C>T

1 paper

NM_014109.4

p.K175_I177delFs

c.525_529del5

1 paper

NM_014109.4

p.T178T

c.534T>G

1 paper

NM_014109.4

p.R195L

c.584G>T

2 papers

NM_014109.4

p.R195H

c.584G>A

1 paper

NM_014109.4

p.K118insFs

c.354dupA

1 paper

NM_014109.4

p.K118delFs

c.354delT

2 papers

NM_014109.4

p.E119fs

c.355_356fs

2 papers

NM_014109.4

p.K118fs

c.352_353fs