Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.A129Splc

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.A129Splc
c.385+5G>T
Surrounding Variants
18 papers
NM_000255.4
p.A129Splc
c.385+5G>A
2 papers
NM_000255.4
p.A129Splc
c.385+2T>G
1 paper
NM_000255.4
p.A129Splc
c.385+2T>C
1 paper
NM_000255.4
p.D125_A129del0
c.374_385del12
2 papers
NM_000255.4
p.N126K
c.378C>G
2 papers
NM_000255.4
p.N126K
c.378C>A
1 paper
NM_000255.4
p.D125_N126insFs
c.375_376insA
2 papers
NM_000255.4
p.K124_D125ins0
c.372_374dupGGA
1 paper
NM_000255.4
p.K121M
c.362A>T
4 papers
NM_000255.4
p.K121*
c.361A>T
10 papers
NM_000255.4
p.N120_K121insFs
c.360_361insT
1 paper
NM_000255.4
p.N120T
c.359A>C
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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."