Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.R1448C

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
3 papers
NM_024857.5
p.R1448C
c.4342C>T
Surrounding Variants
1 paper
NM_024857.5
p.Y1440H
c.4318T>C
1 paper
NM_024857.5
p.C1458W
c.4374T>G
1 paper
NM_024857.5
p.E1460E
c.4380G>A
1 paper
NM_024857.5
p.K1466N
c.4398G>C
1 paper
NM_024857.5
p.K1466N
c.4398G>T
1 paper
NM_024857.5
p.M1485T
c.4454T>C
1 paper
NM_024857.5
p.I1514F
c.4540A>T
1 paper
NM_024857.5
p.P1516T
c.4546C>A
1 paper
NM_024857.5
p.S1532L
c.4595C>T
1 paper
NM_024857.5
p.D1536N
c.4606G>A
1 paper
NM_024857.5
p.A1548fs
c.4642_4643fs
1 paper
NM_024857.5
p.E1553K
c.4657G>A
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