Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.R50*

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.R50*
c.148A>T
Surrounding Variants
1 paper
NM_024857.5
p.K37E
c.109A>G
1 paper
NM_024857.5
p.T35S
c.104C>G
2 papers
NM_024857.5
p.T35S
c.103A>T
1 paper
NM_024857.5
p.T33A
c.97A>G
1 paper
NM_024857.5
p.T69A
c.205A>G
1 paper
NM_024857.5
p.K28M
c.83A>T
1 paper
NM_024857.5
p.T76P
c.226A>C
1 paper
NM_024857.5
p.T76T
c.228A>T
4 papers
NM_024857.5
p.P87S
c.259C>T
1 paper
NM_024857.5
p.P91H
c.272C>A
2 papers
NM_024857.5
p.K96del1
c.286_288delAAA
1 paper
NM_024857.5
p.K113Q
c.337A>C
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