Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.M1I

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
2 papers
NM_000255.4
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_000255.4
p.M1I
c.3G>T
2 papers
NM_000255.4
p.M1insFs
c.2dupT
4 papers
NM_000255.4
p.M1_L2insFs
c.3_4ins7
1 paper
NM_000255.4
p.M1R
c.2T>G
6 papers
NM_000255.4
p.M1T
c.2T>C
1 paper
NM_000255.4
p.M1K
c.2T>A
1 paper
NM_000255.4
p.L2insFs
c.5_6ins4
11 papers
NM_000255.4
p.M1V
c.1A>G
1 paper
NM_000255.4
p.R3I
c.8G>T
1 paper
NM_000255.4
p.R3T
c.8G>C
1 paper
NM_000255.4
p.R3delins
c.8delinsATCTATC
2 papers
NM_000255.4
p.R3delFs
c.7delT
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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."