Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.G53G

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.G53G
c.159C>A
Surrounding Variants
1 paper
NM_000255.4
p.G53D
c.158G>A
10 papers
NM_000255.4
p.K54*
c.160A>T
1 paper
NM_000255.4
p.K54Q
c.160A>C
1 paper
NM_000255.4
p.K49_K52del0
c.146_154del9
1 paper
NM_000255.4
p.K52R
c.155A>G
2 papers
NM_000255.4
p.N55K
c.165C>G
2 papers
NM_000255.4
p.N55K
c.165C>A
1 paper
NM_000255.4
p.N55delFs
c.164delT
1 paper
NM_000255.4
p.L51P
c.152T>C
1 paper
NM_000255.4
p.P56L
c.167C>T
1 paper
NM_000255.4
p.E57K
c.169G>A
1 paper
NM_000255.4
p.Q50fs
c.148_149fs
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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."