Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L434delFs

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
3 papers
NM_000255.4
p.L434delFs
c.1301_1302delGA
Surrounding Variants
1 paper
NM_000255.4
p.T435_N436del2
c.1303_1307del6
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.V438I
c.1312G>A
1 paper
NM_000255.4
p.E432fs
c.1294_1295fs
1 paper
NM_000255.4
p.M431I
c.1293G>T
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.A441_A442insFs
c.1323_1324insA
1 paper
NM_000255.4
p.S428F
c.1283C>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."