Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E224*

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
6 papers
NM_000255.4
p.E224*
c.670G>T
Surrounding Variants
2 papers
NM_000255.4
p.E224D
c.672A>T
1 paper
NM_000255.4
p.K223M
c.668A>T
4 papers
NM_000255.4
p.K223R
c.668A>G
2 papers
NM_000255.4
p.E224D
c.672A>C
1 paper
NM_000255.4
p.F225L
c.673T>C
1 paper
NM_000255.4
p.L222I
c.664C>A
1 paper
NM_000255.4
p.I221delFs
c.662delA
1 paper
NM_000255.4
p.I221K
c.662T>A
3 papers
NM_000255.4
p.V227fs
c.679_680fs
6 papers
NM_000255.4
p.E224_M226insFs
c.671_678dup8
6 papers
NM_000255.4
p.N219_D220del1
c.656_658delCAT
7 papers
NM_000255.4
p.M226insFs
c.678dupG
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."