Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.K190*

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.K190*
c.568A>T
Surrounding Variants
1 paper
NM_024857.5
p.P193_G196delFs
c.577_586del10
1 paper
NM_024857.5
p.A169E
c.506C>A
1 paper
NM_024857.5
p.D215N
c.643G>A
1 paper
NM_024857.5
p.L159S
c.476T>C
3 papers
NM_024857.5
p.D150E
c.450T>A
3 papers
NM_024857.5
p.D150E
c.450T>G
1 paper
NM_024857.5
p.D235D
c.705T>C
3 papers
NM_024857.5
p.E143K
c.427G>A
2 papers
NM_024857.5
p.D140N
c.418G>A
1 paper
NM_024857.5
p.E240K
c.718G>A
3 papers
NM_024857.5
p.E135G
c.404A>G
2 papers
NM_024857.5
p.R249K
c.746G>A
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