Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.D990V

ATAD5

120 papers

Pfam Domains

AAAaa 1128–1217UCSCATPase family associated with various cellular activities (AAA)

Gene Aliases

HGNC Name

ATPase family AAA domain containing 5

HGNC Previous Symbol

C17orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024857.5
p.D990V
c.2969A>T
Surrounding Variants
1 paper
NM_024857.5
p.V1001V
c.3003A>G
1 paper
NM_024857.5
p.K1011E
c.3031A>G
1 paper
NM_024857.5
p.K984E
c.2950A>G
1 paper
NM_024857.5
p.H974R
c.2921A>G
1 paper
NM_024857.5
p.I972T
c.2915T>C
1 paper
NM_024857.5
p.L967F
c.2899C>T
1 paper
NM_024857.5
p.F964C
c.2891T>G
1 paper
NM_024857.5
p.K922M
c.2765A>T
1 paper
NM_024857.5
p.K886E
c.2656A>G
1 paper
NM_024857.5
p.V870F
c.2608G>T
1 paper
NM_024857.5
p.A856A
c.2568G>A
3 papers
NM_024857.5
p.L857_A862del6
c.2569_2585del18
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