Varaico: Literature-Extracted Genetic Variants

ATAD3B

130 papers

RefSeq Summary

The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and...

Pfam Domains

ATAD3_Naa 28–286UCSCATPase family AAA domain-containing protein 3, N-terminal

AAAaa 348–475UCSCATPase family associated with various cellular activities (AAA)

Gene Aliases

HGNC Name

ATPase family AAA domain containing 3B

HGNC Alias Symbols

TOB3; KIAA1273

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031921.6

p.F436fs

c.1306_1307fs

Surrounding Variants

1 paper

NM_031921.6

p.L437delFs

c.1309delC

1 paper

NM_031921.6

p.L437fs

c.1309_1310fs

2 papers

NM_031921.6

p.A435T

c.1303G>A

1 paper

NM_031921.6

p.Y438H

c.1312T>C

1 paper

NM_031921.6

p.L433M

c.1297C>A

1 paper

NM_031921.6

p.I425K

c.1274T>A

1 paper

NM_031921.6

p.V450A

c.1349T>C

1 paper

NM_031921.6

p.N464K

c.1392C>A

1 paper

NM_031921.6

p.N464K

c.1392C>G

1 paper

NM_031921.6

p.R466G

c.1396C>G

1 paper

NM_031921.6

p.H472delFs

c.1414delC

1 paper

NM_031921.6

p.H472fs

c.1414_1415fs