Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.D195A

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
2 papers
NM_001321967.2
p.D195A
c.584A>C
Surrounding Variants
1 paper
NM_001321967.2
p.E207A
c.620A>C
1 paper
NM_001321967.2
p.A210D
c.629C>A
1 paper
NM_001321967.2
p.M217I
c.651G>A
2 papers
NM_001321967.2
p.D221H
c.661G>C
1 paper
NM_001321967.2
p.Q230_V231Splc
c.690+1G>C
1 paper
NM_001321967.2
p.R239H
c.716G>A
1 paper
NM_001321967.2
p.R254G
c.760A>G
1 paper
NM_001321967.2
p.H256N
c.766C>A
1 paper
NM_001321967.2
p.P260_A261Splc
c.780+1G>A
1 paper
NM_001321967.2
p.D195Splc
c.583+5G>A
11 papers
NM_001321967.2
p.E193Q
c.577G>C
1 paper
NM_001321967.2
p.Y167F
c.500A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."