Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.I41I

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.I41I
c.123T>C
Surrounding Variants
1 paper
NM_001321967.2
p.K48R
c.143A>G
1 paper
NM_001321967.2
p.E50*
c.148G>T
1 paper
NM_001321967.2
p.E50K
c.148G>A
2 papers
NM_001321967.2
p.Q54H
c.162G>T
2 papers
NM_001321967.2
p.Q54H
c.162G>C
1 paper
NM_001321967.2
p.V16A
c.47T>C
1 paper
NM_001321967.2
p.E15K
c.43G>A
2 papers
NM_001321967.2
p.R9H
c.26G>A
1 paper
NM_001321967.2
p.M1V
c.1A>G
1 paper
NM_001321967.2
p.Q54_A55Splc
c.162+5274G>A
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