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.I333V

c.997A>G

Surrounding Variants

1 paper

NM_031921.6

p.R327P

c.980G>C

1 paper

NM_031921.6

p.N341T

c.1022A>C

1 paper

NM_031921.6

p.P322R

c.965C>G

1 paper

NM_031921.6

p.G352A

c.1055G>C

1 paper

NM_031921.6

p.P354A

c.1060C>G

2 papers

NM_031921.6

p.G355D

c.1064G>A

1 paper

NM_031921.6

p.V318D

c.953T>A

1 paper

NM_031921.6

p.V314A

c.941T>C

1 paper

NM_031921.6

p.P311S

c.931C>T

1 paper

NM_031921.6

p.G370S

c.1108G>A

1 paper

NM_031921.6

p.V381insFs

c.1141dupG

1 paper

NM_031921.6

p.V381M

c.1141G>A