Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.A731T

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.A731T
c.2191G>A
Surrounding Variants
1 paper
NM_000255.4
p.A732T
c.2194G>A
1 paper
NM_000255.4
p.A732fs
c.2194_2195fs
1 paper
NM_000255.4
p.V733fs
c.2197_2198fs
1 paper
NM_000255.4
p.A732insFs
c.2196dupC
1 paper
NM_000255.4
p.A731_A732insFs
c.2193_2196dup4
1 paper
NM_000255.4
p.V733I
c.2197G>A
1 paper
NM_000255.4
p.V733Fs
c.2197delinsTGGAAFs
4 papers
NM_000255.4
p.A732_V733Fs
c.2194_2197delinsTGGAAFs
3 papers
NM_000255.4
p.P729_K730insT
c.2185_2189ins3
50 papers
NM_000255.4
p.P729_K730insTT
c.2185_2189ins6
1 paper
NM_000255.4
p.A732_V733delFs
c.2194_2197del4
9 papers
NM_000255.4
p.Q734*
c.2200C>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."