Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.D1046Splc

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.D1046Splc
c.3137-7G>T
Surrounding Variants
1 paper
NM_024857.5
p.T1055R
c.3164C>G
1 paper
NM_024857.5
p.R1085T
c.3254G>C
1 paper
NM_024857.5
p.D1100delFs
c.3298_3299delGA
1 paper
NM_024857.5
p.R1099G
c.3295A>G
1 paper
NM_024857.5
p.E1104V
c.3311A>T
1 paper
NM_024857.5
p.F1106_I1110del5
c.3316_3329del15
1 paper
NM_024857.5
p.P1133S
c.3397C>T
1 paper
NM_024857.5
p.G1137E
c.3410G>A
1 paper
NM_024857.5
p.A1146S
c.3436G>T
1 paper
NM_024857.5
p.E1155*
c.3463G>T
1 paper
NM_024857.5
p.L1171F
c.3513G>C
1 paper
NM_024857.5
p.L1171F
c.3513G>T
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