Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L10I

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.L10I
c.28T>A
Surrounding Variants
3 papers
NM_000255.4
p.L10fs
c.28_29fs
1 paper
NM_000255.4
p.F9insFs
c.26_27insG
1 paper
NM_000255.4
p.L10F
c.30A>T
1 paper
NM_000255.4
p.L10F
c.30A>C
5 papers
NM_000255.4
p.L10insFs
c.29dupT
3 papers
NM_000255.4
p.L10delFs
c.29delA
1 paper
NM_000255.4
p.L11fs
c.31_32fs
1 paper
NM_000255.4
p.L10insFs
c.30dupA
1 paper
NM_000255.4
p.L10delFs
c.30delT
1 paper
NM_000255.4
p.L8delFs
c.22delG
1 paper
NM_000255.4
p.L8fs
c.22_23fs
1 paper
NM_000255.4
p.L8F
c.22C>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."