Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L196F

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.L196F
c.586C>T
Surrounding Variants
5 papers
NM_000255.4
p.A197T
c.589G>A
1 paper
NM_000255.4
p.V195I
c.583G>A
1 paper
NM_000255.4
p.A197E
c.590C>A
5 papers
NM_000255.4
p.P194L
c.581C>T
1 paper
NM_000255.4
p.A197fs
c.589_590fs
1 paper
NM_000255.4
p.P194S
c.580C>T
1 paper
NM_000255.4
p.A191_N198ins2
c.572_592dup21
1 paper
NM_000255.4
p.I193N
c.578T>A
1 paper
NM_000255.4
p.N198delFs
c.593delT
1 paper
NM_000255.4
p.N198_F199delFs
c.592_595del4
1 paper
NM_000255.4
p.F199F
c.597T>C
1 paper
NM_000255.4
p.I200L
c.598A>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."