Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V699G

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.V699G
c.2096T>G
Surrounding Variants
1 paper
NM_000255.4
p.M700R
c.2099T>G
18 papers
NM_000255.4
p.M700K
c.2099T>A
3 papers
NM_000255.4
p.M700delFs
c.2098_2099delAT
1 paper
NM_000255.4
p.C701delFs
c.2101delA
1 paper
NM_000255.4
p.I697_C701delFs
c.2089_2101del13
14 papers
NM_000255.4
p.G703R
c.2107G>C
14 papers
NM_000255.4
p.G703R
c.2107G>A
7 papers
NM_000255.4
p.G702delFs
c.2106delT
1 paper
NM_000255.4
p.P695L
c.2084C>T
4 papers
NM_000255.4
p.R694L
c.2081G>T
54 papers
NM_000255.4
p.R694W
c.2080C>T
1 paper
NM_000255.4
p.R694R
c.2080C>A
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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."