Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L685insFs

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.L685insFs
c.2055dupC
Surrounding Variants
4 papers
NM_000255.4
p.L685ins0
c.2053_2055dupCTC
1 paper
NM_000255.4
p.L685_I686ins1
c.2055_2056insCTC
4 papers
NM_000255.4
p.L685R
c.2054T>G
1 paper
NM_000255.4
p.E684_L685ins1
c.2052_2053insCTC
13 papers
NM_000255.4
p.E688*
c.2062G>T
1 paper
NM_000255.4
p.E688G
c.2063A>G
1 paper
NM_000255.4
p.E688insFs
c.2062_2063insGA
1 paper
NM_000255.4
p.L689_N690delFs
c.2067_2068delTA
1 paper
NM_000255.4
p.L692F
c.2074C>T
1 paper
NM_000255.4
p.L692P
c.2075T>C
1 paper
NM_000255.4
p.K679N
c.2037A>T
1 paper
NM_000255.4
p.K679N
c.2037A>C
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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."