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.E154D

c.462G>C

Surrounding Variants

1 paper

NM_031921.6

p.E154D

c.462G>T

2 papers

NM_031921.6

p.R170W

c.508C>T

1 paper

NM_031921.6

p.M186L

c.556A>T

1 paper

NM_031921.6

p.E192K

c.574G>A

1 paper

NM_031921.6

p.A193V

c.578C>T

1 paper

NM_031921.6

p.A195V

c.584C>T

1 paper

NM_031921.6

p.R196C

c.586C>T

1 paper

NM_031921.6

p.A197T

c.589G>A

1 paper

NM_031921.6

p.R208C

c.622C>T

2 papers

NM_031921.6

p.E209K

c.625G>A

1 paper

NM_031921.6

p.R212C

c.634C>T

1 paper

NM_031921.6

p.R212L

c.635G>T