Varaico: Literature-Extracted Genetic Variants

Gene:MMUT

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
1–12 of 1089 variants
72 papers
NM_000255.4
p.R369H
c.1106G>A
59 papers
NM_000255.4
p.N219Y
c.655A>T
56 papers
NM_000255.4
p.A243_D244insFs
c.729_730insTT
55 papers
NM_000255.4
p.R108H
c.323G>A
55 papers
NM_000255.4
p.G717V
c.2150G>T
54 papers
NM_000255.4
p.R694W
c.2080C>T
51 papers
NM_000255.4
p.R108C
c.322C>T
50 papers
NM_000255.4
p.P729_K730insTT
c.2185_2189ins6
47 papers
NM_000255.4
p.G427D
c.1280G>A
42 papers
NM_000255.4
p.R93H
c.278G>A
41 papers
NM_000255.4
p.E117*
c.349G>T
37 papers
NM_000255.4
p.R228*
c.682C>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."