Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.M431I

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.M431I
c.1293G>T
Surrounding Variants
1 paper
NM_000255.4
p.E432fs
c.1294_1295fs
9 papers
NM_000255.4
p.E432A
c.1295A>C
1 paper
NM_000255.4
p.E432delFs
c.1294delC
1 paper
NM_000255.4
p.M430insFs
c.1288dupA
6 papers
NM_000255.4
p.Y429*
c.1287C>G
4 papers
NM_000255.4
p.Y429*
c.1287C>A
6 papers
NM_000255.4
p.Y429C
c.1286A>G
1 paper
NM_000255.4
p.S428F
c.1283C>T
3 papers
NM_000255.4
p.L434delFs
c.1301_1302delGA
1 paper
NM_000255.4
p.G427V
c.1280G>T
47 papers
NM_000255.4
p.G427D
c.1280G>A
1 paper
NM_000255.4
p.G426E
c.1277G>A
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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."