Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E373G

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.E373G
c.1118A>G
Surrounding Variants
1 paper
NM_000255.4
p.E373insFs
c.1119dupA
2 papers
NM_000255.4
p.I372T
c.1115T>C
1 paper
NM_000255.4
p.A374V
c.1121C>T
1 paper
NM_000255.4
p.A371insFs
c.1112dupC
1 paper
NM_000255.4
p.M375_A376insA
c.1123_1127ins3
1 paper
NM_000255.4
p.M375I
c.1125G>A
1 paper
NM_000255.4
p.T370fs
c.1108_1109fs
1 paper
NM_000255.4
p.A376fs
c.1126_1127fs
3 papers
NM_000255.4
p.T370fs
c.1108_1109fs
2 papers
NM_000255.4
p.T370P
c.1108A>C
6 papers
NM_000255.4
p.R369insFs
c.1107dupT
2 papers
NM_000255.4
p.A376delFs
c.1126_1127delGC
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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."