Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E205K

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
5 papers
NM_000255.4
p.E205K
c.613G>A
Surrounding Variants
1 paper
NM_000255.4
p.E205fs
c.613_614fs
4 papers
NM_000255.4
p.E204G
c.611A>G
1 paper
NM_000255.4
p.E204*
c.610G>T
1 paper
NM_000255.4
p.E204K
c.610G>A
1 paper
NM_000255.4
p.Q206*
c.616C>T
1 paper
NM_000255.4
p.E205del1
c.613_614delTTC
17 papers
NM_000255.4
p.G203R
c.607G>C
16 papers
NM_000255.4
p.G203R
c.607G>A
1 paper
NM_000255.4
p.G207insFs
c.620_621insA
1 paper
NM_000255.4
p.G207D
c.620G>A
1 paper
NM_000255.4
p.G207insFs
c.619dupG
1 paper
NM_000255.4
p.V208fs
c.622_623fs
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."