Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.H678R

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
5 papers
NM_000255.4
p.H678R
c.2033A>G
Surrounding Variants
1 paper
NM_000255.4
p.K679N
c.2037A>T
1 paper
NM_000255.4
p.K679N
c.2037A>C
5 papers
NM_000255.4
p.A676T
c.2026G>A
1 paper
NM_000255.4
p.T673Fs
c.2018_2019delinsCFs
2 papers
NM_000255.4
p.L674F
c.2020C>T
1 paper
NM_000255.4
p.T673T
c.2019C>T
1 paper
NM_000255.4
p.S672delFs
c.2014delT
1 paper
NM_000255.4
p.E684_L685ins1
c.2052_2053insCTC
4 papers
NM_000255.4
p.L685R
c.2054T>G
1 paper
NM_000255.4
p.I671delFs
c.2011delT
14 papers
NM_000255.4
p.I671V
c.2011A>G
4 papers
NM_000255.4
p.G670delFs
c.2009delC
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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."