Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.S238F

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.S238F
c.713C>T
Surrounding Variants
1 paper
NM_000255.4
p.P237P
c.711A>G
2 papers
NM_000255.4
p.M239K
c.716T>A
1 paper
NM_000255.4
p.M239_K240insFs
c.717_718insTT
1 paper
NM_000255.4
p.E236D
c.708A>C
1 paper
NM_000255.4
p.P235delFs
c.705delT
1 paper
NM_000255.4
p.I242F
c.724A>T
1 paper
NM_000255.4
p.I242delFs
c.724delT
1 paper
NM_000255.4
p.P234fs
c.700_701fs
2 papers
NM_000255.4
p.P234S
c.700C>T
1 paper
NM_000255.4
p.F233insFs
c.699dupT
1 paper
NM_000255.4
p.A243S
c.727G>T
3 papers
NM_000255.4
p.A243_D244insFs
c.729_730insT
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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."