Varaico: Literature-Extracted Genetic Variants

Gene:MACO1
Variant:p.H147D

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
2 papers
NM_018202.6
p.H147D
c.439C>G
Surrounding Variants
1 paper
NM_018202.6
p.R152H
c.455G>A
1 paper
NM_018202.6
p.V125M
c.373G>A
1 paper
NM_018202.6
p.P162L
c.485C>T
1 paper
NM_018202.6
p.Y173*
c.519C>A
1 paper
NM_018202.6
p.Y173*
c.519C>G
1 paper
NM_018202.6
p.Q183*
c.547C>T
1 paper
NM_018202.6
p.E191K
c.571G>A
1 paper
NM_018202.6
p.Q205K
c.613C>A
1 paper
NM_018202.6
p.L208L
c.622C>T
1 paper
NM_018202.6
p.K210T
c.629A>C
1 paper
NM_018202.6
p.A218Splc
c.652+22G>T
1 paper
NM_018202.6
p.S227P
c.679T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."