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.R466G

c.1396C>G

Surrounding Variants

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.H472delFs

c.1414delC

1 paper

NM_031921.6

p.H472fs

c.1414_1415fs

1 paper

NM_031921.6

p.V450A

c.1349T>C

1 paper

NM_031921.6

p.R483H

c.1448G>A

3 papers

NM_031921.6

p.V485A

c.1454T>C

1 paper

NM_031921.6

p.K495R

c.1484A>G

1 paper

NM_031921.6

p.R503C

c.1507C>T

1 paper

NM_031921.6

p.R503H

c.1508G>A

3 papers

NM_031921.6

p.S516W

c.1547C>G

1 paper

NM_031921.6

p.R520W

c.1558C>T