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

2 papers

NM_031921.6

p.R638Q

c.1913G>A

Surrounding Variants

17 papers

NM_031921.6

p.P639S

c.1915C>T

1 paper

NM_031921.6

p.P639L

c.1916C>T

1 paper

NM_031921.6

p.P639P

c.1917G>A

1 paper

NM_031921.6

p.L647delFs

c.1939_1940delCT

1 paper

NM_031921.6

p.L647fs

c.1939_1940fs

2 papers

NM_031921.6

p.M619V

c.1855A>G

1 paper

NM_031921.6

p.L607insFs

c.1819_1820insA

1 paper

NM_031921.6

p.L607fs

c.1819_1820fs

1 paper

NM_031921.6

p.Y604C

c.1811A>G

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.L593F

c.1777C>T