Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.R103W

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.R103W
c.307A>T
Surrounding Variants
1 paper
NM_000255.4
p.R103fs
c.307_308fs
1 paper
NM_000255.4
p.R103_P104insFs
c.309_310insCT
1 paper
NM_000255.4
p.R103_P104ins1
c.309_310insCCT
1 paper
NM_000255.4
p.P104insFs
c.310_311insC
8 papers
NM_000255.4
p.W105R
c.313T>C
6 papers
NM_000255.4
p.W105R
c.313T>A
3 papers
NM_000255.4
p.P104delFs
c.312delG
1 paper
NM_000255.4
p.W105fs
c.313_314fs
1 paper
NM_000255.4
p.T101fs
c.301_302fs
1 paper
NM_000255.4
p.T101insFs
c.301_302insTA
9 papers
NM_000255.4
p.Y100C
c.299A>G
1 paper
NM_000255.4
p.T106P
c.316A>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."