Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.N189K

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
10 papers
NM_000255.4
p.N189K
c.567T>G
Surrounding Variants
4 papers
NM_000255.4
p.N189K
c.567T>A
9 papers
NM_000255.4
p.N189insFs
c.567dupT
3 papers
NM_000255.4
p.N189I
c.566A>T
4 papers
NM_000255.4
p.N189S
c.566A>G
1 paper
NM_000255.4
p.G190V
c.569G>T
2 papers
NM_000255.4
p.G190_A191insFs
c.570_571insT
1 paper
NM_000255.4
p.A191T
c.571G>A
1 paper
NM_000255.4
p.G190ins0
c.568_570dupGGA
23 papers
NM_000255.4
p.A191E
c.572C>A
1 paper
NM_000255.4
p.T187S
c.560C>G
1 paper
NM_000255.4
p.T187S
c.559A>T
1 paper
NM_000255.4
p.I193N
c.578T>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."