Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.D149insFs

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
2 papers
NM_000255.4
p.D149insFs
c.445_446insA
Surrounding Variants
4 papers
NM_000255.4
p.D149G
c.446A>G
3 papers
NM_000255.4
p.S148L
c.443C>T
1 paper
NM_000255.4
p.D149insFs
c.446_447insA
2 papers
NM_000255.4
p.D149delFs
c.445_446delTC
3 papers
NM_000255.4
p.D147E
c.441T>G
5 papers
NM_000255.4
p.D147E
c.441T>A
1 paper
NM_000255.4
p.N150S
c.449A>G
1 paper
NM_000255.4
p.P151T
c.451C>A
1 paper
NM_000255.4
p.Y146*
c.438T>G
1 paper
NM_000255.4
p.Y146*
c.438T>A
2 papers
NM_000255.4
p.P151H
c.452C>A
2 papers
NM_000255.4
p.Y146C
c.437A>G
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."