Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V208fs

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.V208fs
c.622_623fs
Surrounding Variants
1 paper
NM_000255.4
p.G207insFs
c.619dupG
1 paper
NM_000255.4
p.V208delFs
c.622delC
1 paper
NM_000255.4
p.G207insFs
c.620_621insA
1 paper
NM_000255.4
p.G207D
c.620G>A
5 papers
NM_000255.4
p.V208delFs
c.623_624delTA
1 paper
NM_000255.4
p.P209H
c.626C>A
1 paper
NM_000255.4
p.P209_K210insFs
c.627_628insCT
12 papers
NM_000255.4
p.P209insFs
c.626dupC
1 paper
NM_000255.4
p.P209fs
c.625_626fs
1 paper
NM_000255.4
p.Q206*
c.616C>T
1 paper
NM_000255.4
p.E205del1
c.613_614delTTC
10 papers
NM_000255.4
p.K210*
c.628A>T
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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."