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.M410V

c.1228A>G

Surrounding Variants

1 paper

NM_031921.6

p.L408F

c.1222C>T

1 paper

NM_031921.6

p.L407M

c.1219C>A

1 paper

NM_031921.6

p.F416C

c.1247T>G

1 paper

NM_031921.6

p.R418Q

c.1253G>A

3 papers

NM_031921.6

p.R420G

c.1258C>G

1 paper

NM_031921.6

p.R420*

c.1258C>T

3 papers

NM_031921.6

p.R386Q

c.1157G>A

1 paper

NM_031921.6

p.V381M

c.1141G>A

1 paper

NM_031921.6

p.V381fs

c.1141_1142fs

1 paper

NM_031921.6

p.V381insFs

c.1141dupG

1 paper

NM_031921.6

p.G370S

c.1108G>A

1 paper

NM_031921.6

p.I425K

c.1274T>A