Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Q361_D362Splc

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.Q361_D362Splc
c.1084-1G>A
Surrounding Variants
1 paper
NM_000255.4
p.Q361_D362Splc
c.1084-2A>G
1 paper
NM_000255.4
p.D362D
c.1086T>C
1 paper
NM_000255.4
p.Y364fs
c.1090_1091fs
4 papers
NM_000255.4
p.Y364S
c.1091A>C
10 papers
NM_000255.4
p.Q361_D362Splc
c.1084-10A>G
7 papers
NM_000255.4
p.N366S
c.1097A>G
1 paper
NM_000255.4
p.V368G
c.1103T>G
4 papers
NM_000255.4
p.V368D
c.1103T>A
30 papers
NM_000255.4
p.R369C
c.1105C>T
72 papers
NM_000255.4
p.R369H
c.1106G>A
3 papers
NM_000255.4
p.T370fs
c.1108_1109fs
2 papers
NM_000255.4
p.T370P
c.1108A>C
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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."