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.D752G

c.2255A>G

Surrounding Variants

1 paper

NM_014109.4

p.G762G

c.2286A>G

1 paper

NM_014109.4

p.D736_S737insGGG

c.2206_2210ins9

1 paper

NM_014109.4

p.D736H

c.2206G>C

1 paper

NM_014109.4

p.T734I

c.2201C>T

1 paper

NM_014109.4

p.F729L

c.2187C>G

1 paper

NM_014109.4

p.F729L

c.2187C>A

1 paper

NM_014109.4

p.F729L

c.2185T>C

2 papers

NM_014109.4

p.R792*

c.2374C>T

1 paper

NM_014109.4

p.P793Q

c.2378C>A

3 papers

NM_014109.4

p.L709L

c.2125C>T

1 paper

NM_014109.4

p.T703_V704insG

c.2107_2111ins3

1 paper

NM_014109.4

p.A700_L701insCCG

c.2098_2102ins9