Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V438I

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.V438I
c.1312G>A
Surrounding Variants
1 paper
NM_000255.4
p.T435_N436del2
c.1303_1307del6
3 papers
NM_000255.4
p.L434delFs
c.1301_1302delGA
1 paper
NM_000255.4
p.A441_A442insFs
c.1323_1324insA
1 paper
NM_000255.4
p.A442insFs
c.1324_1325insA
2 papers
NM_000255.4
p.A442P
c.1324G>C
1 paper
NM_000255.4
p.L443F
c.1329A>T
9 papers
NM_000255.4
p.E432A
c.1295A>C
1 paper
NM_000255.4
p.L443F
c.1329A>C
3 papers
NM_000255.4
p.L443insFs
c.1328dupT
1 paper
NM_000255.4
p.E432delFs
c.1294delC
2 papers
NM_000255.4
p.K444*
c.1330A>T
1 paper
NM_000255.4
p.L443insFs
c.1328_1329dupTA
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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."