Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E414fs

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.E414fs
c.1240_1241fs
Surrounding Variants
4 papers
NM_000255.4
p.E414*
c.1240G>T
1 paper
NM_000255.4
p.E414K
c.1240G>A
1 paper
NM_000255.4
p.E414delFs
c.1240delC
1 paper
NM_000255.4
p.E415K
c.1243G>A
5 papers
NM_000255.4
p.Q413*
c.1237C>T
2 papers
NM_000255.4
p.I412del1
c.1234_1235delAAT
2 papers
NM_000255.4
p.I411_I412del1
c.1233_1235delATG
1 paper
NM_000255.4
p.I412T
c.1235T>C
1 paper
NM_000255.4
p.S416S
c.1248T>G
1 paper
NM_000255.4
p.I411V
c.1231A>G
1 paper
NM_000255.4
p.I410V
c.1228A>G
1 paper
NM_000255.4
p.Q409*
c.1225C>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."