Varaico: Literature-Extracted Genetic Variants

ATAD3A

147 papers

RefSeq Summary

This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolis...

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 3A

HGNC Alias Symbol

FLJ10709

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001170535.3

p.G355R

c.1063G>C

Surrounding Variants

17 papers

NM_001170535.3

p.G355D

c.1064G>A

1 paper

NM_001170535.3

p.P354L

c.1061C>T

1 paper

NM_001170535.3

p.G352E

c.1055G>A

1 paper

NM_001170535.3

p.K358E

c.1072A>G

1 paper

NM_001170535.3

p.K358*

c.1072A>T

2 papers

NM_001170535.3

p.K358R

c.1073A>G

1 paper

NM_018188.5

p.T407T

c.1221G>C

3 papers

NM_001170535.3

p.L360L

c.1078C>T

1 paper

NM_001170535.3

p.F361L

c.1081T>C

1 paper

NM_001170535.3

p.K363_K364Splc

c.1089+8C>T

1 paper

NM_001170535.3

p.S343G

c.1027A>G

1 paper

NM_001170535.3

p.K363_K364Splc

c.1089+11C>T