Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.D663_A664del1

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.D663_A664del1
c.1989_1991delGCA
Surrounding Variants
2 papers
NM_000255.4
p.A664A
c.1992G>A
1 paper
NM_000255.4
p.V666M
c.1996G>A
1 paper
NM_000255.4
p.V666E
c.1997T>A
1 paper
NM_000255.4
p.V662A
c.1985T>C
2 papers
NM_000255.4
p.H667R
c.2000A>G
6 papers
NM_000255.4
p.A658_Q660del3
c.1972_1979del9
2 papers
NM_000255.4
p.A668T
c.2002G>A
1 paper
NM_000255.4
p.A661S
c.1981G>T
1 paper
NM_000255.4
p.Q660H
c.1980G>T
1 paper
NM_000255.4
p.Q660H
c.1980G>C
5 papers
NM_000255.4
p.V669E
c.2006T>A
1 paper
NM_000255.4
p.V657_Q659del3
c.1969_1976del9
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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."