Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.A137V

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
7 papers
NM_000255.4
p.A137V
c.410C>T
Surrounding Variants
3 papers
NM_000255.4
p.A137G
c.410C>G
4 papers
NM_000255.4
p.V136F
c.406G>T
1 paper
NM_000255.4
p.D139N
c.415G>A
1 paper
NM_000255.4
p.S135L
c.404C>T
2 papers
NM_000255.4
p.S135*
c.404C>A
1 paper
NM_000255.4
p.S135A
c.403T>G
1 paper
NM_000255.4
p.L140fs
c.418_419fs
1 paper
NM_000255.4
p.D139insFs
c.417dupT
1 paper
NM_000255.4
p.L140R
c.419T>G
12 papers
NM_000255.4
p.L140P
c.419T>C
1 paper
NM_000255.4
p.L134S
c.401T>C
5 papers
NM_000255.4
p.G133delFs
c.398_399delTC
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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."