Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.N388_F390del3

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.N388_F390del3
c.1162_1169del9
Surrounding Variants
1 paper
NM_000255.4
p.S389_F390del1
c.1166_1168delAAG
1 paper
NM_000255.4
p.E392insFs
c.1175_1176insT
1 paper
NM_000255.4
p.S389A
c.1165T>G
1 paper
NM_000255.4
p.A393T
c.1177G>A
1 paper
NM_000255.4
p.N388K
c.1164T>G
1 paper
NM_000255.4
p.N388K
c.1164T>A
2 papers
NM_000255.4
p.L394fs
c.1180_1181fs
2 papers
NM_000255.4
p.N388H
c.1162A>C
3 papers
NM_000255.4
p.L394*
c.1181T>A
2 papers
NM_000255.4
p.L394insFs
c.1181dupT
1 paper
NM_000255.4
p.L394L
c.1182G>A
7 papers
NM_000255.4
p.T387I
c.1160C>T
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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."