Varaico: Literature-Extracted Genetic Variants

Gene:MACROD1

MACROD1

24 papers

Pfam Domains

Macroaa 170–283UCSCMacro domain

Gene Aliases

HGNC Name

mono-ADP ribosylhydrolase 1

HGNC Alias Symbol

LRP16

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
2 papers
NM_014067.4
p.A132fs
c.394_395fs
2 papers
NM_014067.4
p.A132delFs
c.396delC
1 paper
NM_014067.4
p.P26L
c.77C>T
1 paper
NM_014067.4
p.R36K
c.107G>A
1 paper
NM_014067.4
p.G65R
c.193G>C
1 paper
NM_014067.4
p.G65R
c.193G>A
1 paper
NM_014067.4
p.A85A
c.255G>A
1 paper
NM_014067.4
p.K86M
c.257A>T
1 paper
NM_014067.4
p.T91I
c.272C>T
1 paper
NM_014067.4
p.G134E
c.401G>A
1 paper
NM_014067.4
p.V135fs
c.403_404fs
1 paper
NM_014067.4
p.P142L
c.425C>T
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