Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.R228*

MMUT

855 papers

RefSeq Summary

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA...

Pfam Domains

MM_CoA_mutaseaa 62–575UCSCMethylmalonyl-CoA mutase
B12-bindingaa 615–733UCSCB12 binding domain

Gene Aliases

HGNC Name

methylmalonyl-CoA mutase

HGNC Previous Symbol

MUT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
37 papers
NM_000255.4
p.R228*
c.682C>T
Surrounding Variants
1 paper
NM_000255.4
p.R228G
c.682C>G
3 papers
NM_000255.4
p.V227fs
c.679_680fs
21 papers
NM_000255.4
p.R228Q
c.683G>A
7 papers
NM_000255.4
p.M226insFs
c.678dupG
3 papers
NM_000255.4
p.V227fs
c.679_680fs
6 papers
NM_000255.4
p.E224_M226insFs
c.671_678dup8
4 papers
NM_000255.4
p.T230I
c.689C>T
3 papers
NM_000255.4
p.T230R
c.689C>G
1 paper
NM_000255.4
p.F225L
c.673T>C
15 papers
NM_000255.4
p.Y231N
c.691T>A
3 papers
NM_000255.4
p.T230delFs
c.689_690delTG
2 papers
NM_000255.4
p.E224D
c.672A>T
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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."