Varaico: Literature-Extracted Genetic Variants

Gene:MACO1
Variant:p.E117K

MACO1

41 papers

Pfam Domains

Macoilinaa 2–662UCSCMacoilin family

Gene Aliases

HGNC Name

macoilin 1

HGNC Previous Symbol

TMEM57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018202.6
p.E117K
c.349G>A
Surrounding Variants
1 paper
NM_018202.6
p.E117insFs
c.349_350ins8
1 paper
NM_018202.6
p.H115N
c.343C>A
1 paper
NM_018202.6
p.A103fs
c.307_308fs
1 paper
NM_018202.6
p.F102fs
c.304_305fs
1 paper
NM_018202.6
p.L100fs
c.298_299fs
1 paper
NM_018202.6
p.F102insFs
c.306dupT
1 paper
NM_018202.6
p.L100delFs
c.299delT
1 paper
NM_018202.6
p.I97M
c.291A>G
1 paper
NM_018202.6
p.I97V
c.289A>G
2 papers
NM_018202.6
p.L55R
c.164T>G
1 paper
NM_018202.6
p.E53K
c.157G>A
1 paper
NM_018202.6
p.V125M
c.373G>A
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