Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P86delFs

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.P86delFs
c.256delG
Surrounding Variants
2 papers
NM_000255.4
p.G87R
c.259G>C
2 papers
NM_000255.4
p.G87R
c.259G>A
8 papers
NM_000255.4
p.P86L
c.257C>T
2 papers
NM_000255.4
p.G87E
c.260G>A
1 paper
NM_000255.4
p.V88L
c.262G>T
1 paper
NM_000255.4
p.V88V
c.264G>C
1 paper
NM_000255.4
p.K89*
c.265A>T
4 papers
NM_000255.4
p.E84*
c.250G>T
1 paper
NM_000255.4
p.P90Fs
c.268delinsAAFs
1 paper
NM_000255.4
p.P90_F91insFs
c.270_271insA
1 paper
NM_000255.4
p.P82fs
c.244_245fs
1 paper
NM_000255.4
p.L81insFs
c.243dupA
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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."