Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E656D

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.E656D
c.1968A>T
Surrounding Variants
1 paper
NM_000255.4
p.E656D
c.1968A>C
1 paper
NM_000255.4
p.V657E
c.1970T>A
3 papers
NM_000255.4
p.P654_R655delFs
c.1962_1963delGA
1 paper
NM_000255.4
p.R655C
c.1963C>T
4 papers
NM_000255.4
p.Q659*
c.1975C>T
3 papers
NM_000255.4
p.E656_A658del3
c.1966_1973del9
1 paper
NM_000255.4
p.V657_Q659del3
c.1969_1976del9
2 papers
NM_000255.4
p.T653fs
c.1957_1958fs
1 paper
NM_000255.4
p.Q660H
c.1980G>T
1 paper
NM_000255.4
p.Q660H
c.1980G>C
1 paper
NM_000255.4
p.A661S
c.1981G>T
6 papers
NM_000255.4
p.Q652_T653Splc
c.1957-2A>G
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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."