Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K48Q

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.K48Q
c.142A>C
Surrounding Variants
3 papers
NM_000255.4
p.A47_K48insFs
c.141_142ins4
1 paper
NM_000255.4
p.K48R
c.143A>G
1 paper
NM_000255.4
p.A47G
c.140C>G
1 paper
NM_000255.4
p.A47D
c.140C>A
1 paper
NM_000255.4
p.K48N
c.144A>T
1 paper
NM_000255.4
p.K48N
c.144A>C
1 paper
NM_000255.4
p.K49M
c.146A>T
5 papers
NM_000255.4
p.K49insFs
c.146dupA
1 paper
NM_000255.4
p.K49K
c.147G>A
1 paper
NM_000255.4
p.Q50fs
c.148_149fs
1 paper
NM_000255.4
p.L46L
c.136C>T
1 paper
NM_000255.4
p.A45delFs
c.133delC
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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."