Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.G94V

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
11 papers
NM_000255.4
p.G94V
c.281G>T
Surrounding Variants
2 papers
NM_000255.4
p.G94E
c.281G>A
6 papers
NM_000255.4
p.G94R
c.280G>C
8 papers
NM_000255.4
p.G94R
c.280G>A
1 paper
NM_000255.4
p.P95S
c.283C>T
42 papers
NM_000255.4
p.R93H
c.278G>A
1 paper
NM_000255.4
p.P95L
c.284C>T
1 paper
NM_000255.4
p.P95R
c.284C>G
1 paper
NM_000255.4
p.R93S
c.277C>A
1 paper
NM_000255.4
p.P97fs
c.289_290fs
1 paper
NM_000255.4
p.P97insFs
c.289_290insAC
1 paper
NM_000255.4
p.P90_F91insFs
c.270_271insA
1 paper
NM_000255.4
p.P90Fs
c.268delinsAAFs
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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."