Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.F712delFs

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.F712delFs
c.2136delA
Surrounding Variants
1 paper
NM_000255.4
p.F712fs
c.2134_2135fs
5 papers
NM_000255.4
p.E711*
c.2131G>T
1 paper
NM_000255.4
p.G717_V718insTT
c.2149_2153ins6
55 papers
NM_000255.4
p.G717V
c.2150G>T
1 paper
NM_000255.4
p.Q708_D709Splc
c.2125-1G>A
1 paper
NM_000255.4
p.Q708_D709Splc
c.2125-2A>G
5 papers
NM_000255.4
p.Q708_D709Splc
c.2125-3C>G
1 paper
NM_000255.4
p.N720fs
c.2158_2159fs
1 paper
NM_000255.4
p.S719delFs
c.2156delG
2 papers
NM_000255.4
p.N720S
c.2159A>G
2 papers
NM_000255.4
p.N720fs
c.2158_2159fs
3 papers
NM_000255.4
p.N720delFs
c.2159_2160delAT
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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."