Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Q37*

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
2 papers
NM_000255.4
p.Q37*
c.109C>T
Surrounding Variants
1 paper
NM_000255.4
p.P38S
c.112C>T
1 paper
NM_000255.4
p.P38R
c.113C>G
14 papers
NM_000255.4
p.Q35*
c.103C>T
1 paper
NM_000255.4
p.H40Y
c.118C>T
2 papers
NM_000255.4
p.L33R
c.98T>G
1 paper
NM_000255.4
p.L33P
c.98T>C
1 paper
NM_000255.4
p.L33L
c.97C>T
1 paper
NM_000255.4
p.L32L
c.96T>A
1 paper
NM_000255.4
p.L32R
c.95T>G
2 papers
NM_000255.4
p.E42K
c.124G>A
1 paper
NM_000255.4
p.E42V
c.125A>T
1 paper
NM_000255.4
p.R31Q
c.92G>A
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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."