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.K473T

c.1418A>C

Surrounding Variants

1 paper

NM_014109.4

p.R461I

c.1382G>T

1 paper

NM_014109.4

p.F493I

c.1477T>A

1 paper

NM_014109.4

p.S509C

c.1526C>G

1 paper

NM_014109.4

p.D518E

c.1554T>G

1 paper

NM_014109.4

p.D518E

c.1554T>A

1 paper

NM_014109.4

p.Q522H

c.1566G>T

1 paper

NM_014109.4

p.Q522H

c.1566G>C

1 paper

NM_014109.4

p.P525_F529delFs

c.1574_1586del13

1 paper

NM_014109.4

p.F530fs

c.1588_1589fs

1 paper

NM_014109.4

p.P525_F529del5

c.1573_1586del15

2 papers

NM_014109.4

p.F530insFs

c.1590dupT

1 paper

NM_014109.4

p.F530delFs

c.1590delA