Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V136F

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
4 papers
NM_000255.4
p.V136F
c.406G>T
Surrounding Variants
1 paper
NM_000255.4
p.S135L
c.404C>T
2 papers
NM_000255.4
p.S135*
c.404C>A
1 paper
NM_000255.4
p.S135A
c.403T>G
7 papers
NM_000255.4
p.A137V
c.410C>T
3 papers
NM_000255.4
p.A137G
c.410C>G
1 paper
NM_000255.4
p.L134S
c.401T>C
5 papers
NM_000255.4
p.G133delFs
c.398_399delTC
1 paper
NM_000255.4
p.G133V
c.398G>T
1 paper
NM_000255.4
p.G133A
c.398G>C
1 paper
NM_000255.4
p.G133insFs
c.397_398ins17
1 paper
NM_000255.4
p.G133R
c.397G>C
2 papers
NM_000255.4
p.G133R
c.397G>A
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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."