Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.T214I

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.T214I
c.641C>T
Surrounding Variants
3 papers
NM_000255.4
p.G215C
c.643G>T
13 papers
NM_000255.4
p.G215S
c.643G>A
1 paper
NM_000255.4
p.G215D
c.644G>A
1 paper
NM_000255.4
p.L213F
c.637C>T
2 papers
NM_000255.4
p.E211_K212delFs
c.632_636del5
9 papers
NM_000255.4
p.K212K
c.636G>A
1 paper
NM_000255.4
p.T216I
c.647C>T
1 paper
NM_000255.4
p.T216N
c.647C>A
1 paper
NM_000255.4
p.K212E
c.634A>G
1 paper
NM_000255.4
p.E211del1
c.631_632delCTC
1 paper
NM_000255.4
p.E211fs
c.631_632fs
2 papers
NM_000255.4
p.V208_K210del3
c.622_629del9
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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."