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

2 papers

NM_014109.4

p.F392delFs

c.1176delA

Surrounding Variants

1 paper

NM_014109.4

p.R404G

c.1210C>G

1 paper

NM_014109.4

p.S410G

c.1228A>G

1 paper

NM_014109.4

p.R424Q

c.1271G>A

1 paper

NM_014109.4

p.N433D

c.1297A>G

1 paper

NM_014109.4

p.R386Splc

c.1157+135A>G

1 paper

NM_014109.4

p.R386Splc

c.1157+1G>T

1 paper

NM_014109.4

p.R375Q

c.1124G>A

1 paper

NM_014109.4

p.R375W

c.1123C>T

1 paper

NM_014109.4

p.R461I

c.1382G>T

1 paper

NM_014109.4

p.S365Y

c.1094C>A

1 paper

NM_014109.4

p.S360L

c.1079C>T

1 paper

NM_014109.4

p.D359G

c.1076A>G