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.P27L

c.80C>T

Surrounding Variants

2 papers

NM_031921.6

p.G28R

c.82G>A

2 papers

NM_031921.6

p.G28R

c.82G>C

1 paper

NM_031921.6

p.G28W

c.82G>T

1 paper

NM_031921.6

p.P19_A25del0

c.55_75del21

2 papers

NM_031921.6

p.F50L

c.148T>C

2 papers

NM_031921.6

p.F50L

c.150C>A

2 papers

NM_031921.6

p.F50L

c.150C>G

1 paper

NM_031921.6

p.E66V

c.197A>T

1 paper

NM_031921.6

p.A71S

c.211G>T

1 paper

NM_031921.6

p.L75fs

c.223_224fs

1 paper

NM_031921.6

p.L75_N76delFs

c.224_227del4

2 papers

NM_031921.6

p.L77V

c.229C>G