Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L173delFs

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.L173delFs
c.517delG
Surrounding Variants
1 paper
NM_000255.4
p.L173F
c.517C>T
1 paper
NM_000255.4
p.L173V
c.517C>G
9 papers
NM_000255.4
p.F174S
c.521T>C
1 paper
NM_000255.4
p.D175G
c.524A>G
1 paper
NM_000255.4
p.P178L
c.533C>T
1 paper
NM_000255.4
p.V167L
c.499G>T
1 paper
NM_000255.4
p.V167L
c.499G>C
16 papers
NM_000255.4
p.D165G
c.494A>G
1 paper
NM_000255.4
p.D165Y
c.493G>T
4 papers
NM_000255.4
p.M182fs
c.544_545fs
9 papers
NM_000255.4
p.M182insFs
c.544dupA
1 paper
NM_000255.4
p.I164delFs
c.490delT
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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."