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

1–12 of 128 variants

17 papers

NM_031921.6

p.P639S

c.1915C>T

6 papers

NM_031921.6

p.Y604H

c.1810T>C

4 papers

NM_031921.6

p.T600A

c.1798A>G

3 papers

NM_031921.6

p.R386Q

c.1157G>A

3 papers

NM_031921.6

p.R420G

c.1258C>G

3 papers

NM_031921.6

p.V485A

c.1454T>C

3 papers

NM_031921.6

p.S516W

c.1547C>G

3 papers

NM_031921.6

p.R528W

c.1582C>T

3 papers

NM_031921.6

p.Q538P

c.1613A>C

3 papers

NM_031921.6

p.M554V

c.1660A>G

3 papers

NM_031921.6

p.L593F

c.1777C>T

2 papers

NM_031921.6

p.G28R

c.82G>A