Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Q409*

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
1 paper
NM_000255.4
p.Q409*
c.1225C>T
Surrounding Variants
1 paper
NM_000255.4
p.I410V
c.1228A>G
1 paper
NM_000255.4
p.N407fs
c.1219_1220fs
1 paper
NM_000255.4
p.N407insFs
c.1220_1221insA
1 paper
NM_000255.4
p.N407Y
c.1219A>T
1 paper
NM_000255.4
p.I411V
c.1231A>G
1 paper
NM_000255.4
p.N407H
c.1219A>C
1 paper
NM_000255.4
p.R406delFs
c.1218delC
1 paper
NM_000255.4
p.R406R
c.1218G>A
1 paper
NM_000255.4
p.R406G
c.1216A>G
1 paper
NM_000255.4
p.I412T
c.1235T>C
2 papers
NM_000255.4
p.I411_I412del1
c.1233_1235delATG
5 papers
NM_000255.4
p.Q413*
c.1237C>T
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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."