Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Y146C

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
2 papers
NM_000255.4
p.Y146C
c.437A>G
Surrounding Variants
1 paper
NM_000255.4
p.Y146insFs
c.436_437insT
1 paper
NM_000255.4
p.G145_Y146delFs
c.435_436delAG
2 papers
NM_000255.4
p.Y146_D147insA
c.436_440ins3
1 paper
NM_000255.4
p.Y146*
c.438T>G
1 paper
NM_000255.4
p.Y146*
c.438T>A
1 paper
NM_000255.4
p.G145D
c.434G>A
3 papers
NM_000255.4
p.D147E
c.441T>G
5 papers
NM_000255.4
p.D147E
c.441T>A
9 papers
NM_000255.4
p.G145S
c.433G>A
1 paper
NM_000255.4
p.R144H
c.431G>A
3 papers
NM_000255.4
p.S148L
c.443C>T
1 paper
NM_000255.4
p.R144C
c.430C>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."