Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.S23*

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.S23*
c.68C>A
Surrounding Variants
7 papers
NM_000255.4
p.S23*
c.68C>G
1 paper
NM_000255.4
p.S23A
c.67T>G
1 paper
NM_000255.4
p.S22S
c.66A>T
2 papers
NM_000255.4
p.S22S
c.66A>G
1 paper
NM_000255.4
p.S25A
c.73T>G
1 paper
NM_000255.4
p.E21A
c.62A>C
1 paper
NM_000255.4
p.R26_L27insG
c.76_80ins3
1 paper
NM_000255.4
p.V19V
c.57A>G
2 papers
NM_000255.4
p.V19insFs
c.55dupG
2 papers
NM_000255.4
p.V19fs
c.55_56fs
4 papers
NM_000255.4
p.Q18*
c.52C>T
6 papers
NM_000255.4
p.Q30*
c.88C>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."