Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.M99T

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.M99T
c.296T>C
Surrounding Variants
1 paper
NM_000255.4
p.M99L
c.295A>T
1 paper
NM_000255.4
p.M99L
c.295A>C
9 papers
NM_000255.4
p.Y100C
c.299A>G
1 paper
NM_000255.4
p.T101fs
c.301_302fs
1 paper
NM_000255.4
p.T101insFs
c.301_302insTA
1 paper
NM_000255.4
p.P97fs
c.289_290fs
1 paper
NM_000255.4
p.P97insFs
c.289_290insAC
1 paper
NM_000255.4
p.R103fs
c.307_308fs
1 paper
NM_000255.4
p.R103W
c.307A>T
1 paper
NM_000255.4
p.P95L
c.284C>T
1 paper
NM_000255.4
p.P95R
c.284C>G
1 paper
NM_000255.4
p.R103_P104insFs
c.309_310insCT
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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."