Varaico: Literature-Extracted Genetic Variants

Gene:MACO1
Variant:p.A218Splc

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.A218Splc
c.652+22G>T
Surrounding Variants
1 paper
NM_018202.6
p.K210T
c.629A>C
1 paper
NM_018202.6
p.L208L
c.622C>T
1 paper
NM_018202.6
p.Q205K
c.613C>A
1 paper
NM_018202.6
p.E191K
c.571G>A
1 paper
NM_018202.6
p.Q183*
c.547C>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.P162L
c.485C>T
1 paper
NM_018202.6
p.S227P
c.679T>C
1 paper
NM_018202.6
p.R253*
c.757C>T
1 paper
NM_018202.6
p.K323R
c.968A>G
1 paper
NM_018202.6
p.N330H
c.988A>C
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