Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V157D

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
4 papers
NM_000255.4
p.V157D
c.470T>A
Surrounding Variants
2 papers
NM_000255.4
p.V157F
c.469G>T
2 papers
NM_000255.4
p.V157I
c.469G>A
4 papers
NM_000255.4
p.G158V
c.473G>T
3 papers
NM_000255.4
p.D156V
c.467A>T
1 paper
NM_000255.4
p.D156insFs
c.467_468insT
1 paper
NM_000255.4
p.G155_D156del1
c.464_466delCAC
1 paper
NM_000255.4
p.D156H
c.466G>C
4 papers
NM_000255.4
p.D156N
c.466G>A
1 paper
NM_000255.4
p.G155D
c.464G>A
1 paper
NM_000255.4
p.Y146_R154del9
c.436_461del27
1 paper
NM_000255.4
p.R154R
c.462T>G
1 paper
NM_000255.4
p.R154R
c.462T>A
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."