Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.L130V

ATAD1

81 papers

Pfam Domains

AAAaa 129–259UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 281–326UCSCAAA+ lid domain

Gene Aliases

HGNC Name

ATPase family AAA domain containing 1

HGNC Alias Symbols

FLJ14600; Msp1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001321967.2
p.L130V
c.388C>G
Surrounding Variants
1 paper
NM_001321967.2
p.G128V
c.383G>T
1 paper
NM_001321967.2
p.G128Splc
c.383-1G>C
1 paper
NM_001321967.2
p.C137S
c.409T>A
1 paper
NM_001321967.2
p.C137S
c.410G>C
2 papers
NM_001321967.2
p.K139T
c.416A>C
1 paper
NM_001321967.2
p.S160L
c.479C>T
1 paper
NM_001321967.2
p.S160S
c.480G>A
1 paper
NM_001321967.2
p.W166L
c.497G>T
1 paper
NM_001321967.2
p.Y167F
c.500A>T
11 papers
NM_001321967.2
p.E193Q
c.577G>C
1 paper
NM_001321967.2
p.D195Splc
c.583+5G>A
1 paper
NM_001321967.2
p.P110S
c.328C>T
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