Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.H357fs

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
3 papers
NM_001321967.2
p.H357fs
c.1069_1070fs
Surrounding Variants
2 papers
NM_001321967.2
p.H357delFs
c.1070_1071delAT
1 paper
NM_001321967.2
p.D361G
c.1082A>G
1 paper
NM_001321967.2
p.R338L
c.1013G>T
1 paper
NM_001321967.2
p.T318fs
c.952_953fs
1 paper
NM_001321967.2
p.S317C
c.950C>G
1 paper
NM_001321967.2
p.C310S
c.929G>C
1 paper
NM_001321967.2
p.C310S
c.928T>A
1 paper
NM_001321967.2
p.R304Q
c.911G>A
1 paper
NM_001321967.2
p.G293delFs
c.879delC
2 papers
NM_001321967.2
p.E290K
c.868G>A
1 paper
NM_001321967.2
p.L285R
c.854T>G
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