Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.R108delFs

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.R108delFs
c.322delG
Surrounding Variants
1 paper
NM_000255.4
p.R108L
c.323G>T
55 papers
NM_000255.4
p.R108H
c.323G>A
51 papers
NM_000255.4
p.R108C
c.322C>T
6 papers
NM_000255.4
p.R108G
c.322C>G
4 papers
NM_000255.4
p.Q109R
c.326A>G
1 paper
NM_000255.4
p.Q109_Y110insFs
c.327_328insC
1 paper
NM_000255.4
p.I107F
c.319A>T
1 paper
NM_000255.4
p.T106delFs
c.318delG
2 papers
NM_000255.4
p.R103_Q109delFs
c.309_327del19
11 papers
NM_000255.4
p.Y110C
c.329A>G
1 paper
NM_000255.4
p.Y110S
c.329A>C
3 papers
NM_000255.4
p.Y110*
c.330T>G
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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."