Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.D244V

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.D244V
c.731A>T
Surrounding Variants
3 papers
NM_000255.4
p.A243_D244insFs
c.729_730insT
56 papers
NM_000255.4
p.A243_D244insFs
c.729_730insTT
1 paper
NM_000255.4
p.D244ins1
c.730_731insTTG
4 papers
NM_000255.4
p.D244fs
c.730_731fs
27 papers
NM_000255.4
p.D244fs
c.730_731fs
1 paper
NM_000255.4
p.A243S
c.727G>T
1 paper
NM_000255.4
p.I242delFs
c.724delT
1 paper
NM_000255.4
p.I242F
c.724A>T
1 paper
NM_000255.4
p.E247K
c.739G>A
1 paper
NM_000255.4
p.Y248N
c.742T>A
1 paper
NM_000255.4
p.Y248F
c.743A>T
1 paper
NM_000255.4
p.M239_K240insFs
c.717_718insTT
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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."