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.L75fs

c.223_224fs

Surrounding Variants

1 paper

NM_031921.6

p.L75_N76delFs

c.224_227del4

2 papers

NM_031921.6

p.L77V

c.229C>G

1 paper

NM_031921.6

p.L77R

c.230T>G

1 paper

NM_031921.6

p.A71S

c.211G>T

1 paper

NM_031921.6

p.Q83insFs

c.248dupA

1 paper

NM_031921.6

p.T84fs

c.250_251fs

1 paper

NM_031921.6

p.T84M

c.251C>T

1 paper

NM_031921.6

p.S91F

c.272C>T

1 paper

NM_031921.6

p.K92R

c.275A>G

1 paper

NM_031921.6

p.K94_E95Splc

c.283-211A>G

1 paper

NM_031921.6

p.A110V

c.329C>T

1 paper

NM_031921.6

p.E154D

c.462G>C