Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.T216I

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
1 paper
NM_000255.4
p.T216I
c.647C>T
Surrounding Variants
1 paper
NM_000255.4
p.T216N
c.647C>A
1 paper
NM_000255.4
p.G215D
c.644G>A
3 papers
NM_000255.4
p.G215C
c.643G>T
13 papers
NM_000255.4
p.G215S
c.643G>A
1 paper
NM_000255.4
p.T216_I217del1
c.648_650delATG
1 paper
NM_000255.4
p.T216_I217del2
c.646_650del6
1 paper
NM_000255.4
p.T214I
c.641C>T
1 paper
NM_000255.4
p.Q218R
c.653A>G
11 papers
NM_000255.4
p.Q218H
c.654A>T
12 papers
NM_000255.4
p.Q218H
c.654A>C
59 papers
NM_000255.4
p.N219Y
c.655A>T
8 papers
NM_000255.4
p.N219D
c.655A>G
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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."