Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.T142I

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.T142I
c.425C>T
Surrounding Variants
19 papers
NM_000255.4
p.T142A
c.424A>G
1 paper
NM_000255.4
p.A141A
c.423G>A
7 papers
NM_000255.4
p.H143Y
c.427C>T
1 paper
NM_000255.4
p.A141E
c.422C>A
5 papers
NM_000255.4
p.A141delFs
c.421delC
3 papers
NM_000255.4
p.A141_T142ins4
c.421_425ins12
10 papers
NM_000255.4
p.A141T
c.421G>A
2 papers
NM_000255.4
p.A141fs
c.421_422fs
1 paper
NM_000255.4
p.R144C
c.430C>T
1 paper
NM_000255.4
p.L140R
c.419T>G
12 papers
NM_000255.4
p.L140P
c.419T>C
1 paper
NM_000255.4
p.R144H
c.431G>A
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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."