Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.G693fs

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.G693fs
c.2077_2078fs
Surrounding Variants
2 papers
NM_000255.4
p.G693_R694insA
c.2077_2081ins3
1 paper
NM_000255.4
p.L692P
c.2075T>C
2 papers
NM_000255.4
p.G693delFs
c.2078delC
54 papers
NM_000255.4
p.R694W
c.2080C>T
1 paper
NM_000255.4
p.L692F
c.2074C>T
1 paper
NM_000255.4
p.R694R
c.2080C>A
4 papers
NM_000255.4
p.R694L
c.2081G>T
1 paper
NM_000255.4
p.P695L
c.2084C>T
1 paper
NM_000255.4
p.L689_N690delFs
c.2067_2068delTA
1 paper
NM_000255.4
p.E688insFs
c.2062_2063insGA
1 paper
NM_000255.4
p.E688G
c.2063A>G
13 papers
NM_000255.4
p.E688*
c.2062G>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."