Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L140P

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
12 papers
NM_000255.4
p.L140P
c.419T>C
Surrounding Variants
1 paper
NM_000255.4
p.L140R
c.419T>G
1 paper
NM_000255.4
p.L140fs
c.418_419fs
1 paper
NM_000255.4
p.D139insFs
c.417dupT
3 papers
NM_000255.4
p.A141_T142ins4
c.421_425ins12
10 papers
NM_000255.4
p.A141T
c.421G>A
2 papers
NM_000255.4
p.A141fs
c.421_422fs
1 paper
NM_000255.4
p.A141E
c.422C>A
5 papers
NM_000255.4
p.A141delFs
c.421delC
1 paper
NM_000255.4
p.A141A
c.423G>A
1 paper
NM_000255.4
p.D139N
c.415G>A
19 papers
NM_000255.4
p.T142A
c.424A>G
1 paper
NM_000255.4
p.T142I
c.425C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."