Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P90_F91insFs

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.P90_F91insFs
c.270_271insA
Surrounding Variants
1 paper
NM_000255.4
p.P90Fs
c.268delinsAAFs
1 paper
NM_000255.4
p.R93S
c.277C>A
1 paper
NM_000255.4
p.K89*
c.265A>T
1 paper
NM_000255.4
p.V88V
c.264G>C
42 papers
NM_000255.4
p.R93H
c.278G>A
1 paper
NM_000255.4
p.V88L
c.262G>T
6 papers
NM_000255.4
p.G94R
c.280G>C
8 papers
NM_000255.4
p.G94R
c.280G>A
11 papers
NM_000255.4
p.G94V
c.281G>T
2 papers
NM_000255.4
p.G94E
c.281G>A
2 papers
NM_000255.4
p.G87E
c.260G>A
2 papers
NM_000255.4
p.G87R
c.259G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."