Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.T249K

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.T249K
c.746C>A
Surrounding Variants
1 paper
NM_000255.4
p.T249I
c.746C>T
1 paper
NM_000255.4
p.Y248F
c.743A>T
1 paper
NM_000255.4
p.Y248N
c.742T>A
3 papers
NM_000255.4
p.K251N
c.753G>T
4 papers
NM_000255.4
p.K251N
c.753G>C
1 paper
NM_000255.4
p.K251K
c.753G>A
1 paper
NM_000255.4
p.E247K
c.739G>A
1 paper
NM_000255.4
p.K251_H252Splc
c.753+1G>T
1 paper
NM_000255.4
p.K251_H252Splc
c.753+1G>C
3 papers
NM_000255.4
p.K251_H252Splc
c.753+1G>A
6 papers
NM_000255.4
p.K251_H252Splc
c.753+2T>A
5 papers
NM_000255.4
p.K251_H252Splc
c.753+3A>G
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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."