Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K5_N6insFs

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.K5_N6insFs
c.15_16insT
Surrounding Variants
1 paper
NM_000255.4
p.K5N
c.15G>T
1 paper
NM_000255.4
p.K5N
c.15G>C
2 papers
NM_000255.4
p.K5K
c.15G>A
1 paper
NM_000255.4
p.K5*
c.13A>T
1 paper
NM_000255.4
p.N6S
c.17A>G
6 papers
NM_000255.4
p.Q7*
c.19C>T
1 paper
NM_000255.4
p.Q7insFs
c.19_20insT
1 paper
NM_000255.4
p.Q7Q
c.21G>A
1 paper
NM_000255.4
p.L8fs
c.22_23fs
1 paper
NM_000255.4
p.R3I
c.8G>T
1 paper
NM_000255.4
p.R3T
c.8G>C
1 paper
NM_000255.4
p.R3delins
c.8delinsATCTATC
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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."