Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.I705_P706insFs

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
2 papers
NM_000255.4
p.I705_P706insFs
c.2115_2116insA
Surrounding Variants
1 paper
NM_000255.4
p.P706T
c.2116C>A
1 paper
NM_000255.4
p.P706fs
c.2116_2117fs
1 paper
NM_000255.4
p.I705R
c.2114T>G
1 paper
NM_000255.4
p.I705V
c.2113A>G
1 paper
NM_000255.4
p.Q708*
c.2122C>T
14 papers
NM_000255.4
p.G703R
c.2107G>C
14 papers
NM_000255.4
p.G703R
c.2107G>A
4 papers
NM_000255.4
p.Q708_D709Splc
c.2124+1G>A
7 papers
NM_000255.4
p.G702delFs
c.2106delT
1 paper
NM_000255.4
p.C701delFs
c.2101delA
1 paper
NM_000255.4
p.I697_C701delFs
c.2089_2101del13
3 papers
NM_000255.4
p.M700delFs
c.2098_2099delAT
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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."