Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.F379L

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.F379L
c.1137T>A
Surrounding Variants
1 paper
NM_000255.4
p.F379L
c.1137T>G
3 papers
NM_000255.4
p.G380R
c.1138G>C
4 papers
NM_000255.4
p.G380R
c.1138G>A
1 paper
NM_000255.4
p.F379delFs
c.1137delA
1 paper
NM_000255.4
p.F379L
c.1135T>C
4 papers
NM_000255.4
p.G381R
c.1141G>C
5 papers
NM_000255.4
p.G381R
c.1141G>A
2 papers
NM_000255.4
p.G381E
c.1142G>A
1 paper
NM_000255.4
p.A377V
c.1130C>T
5 papers
NM_000255.4
p.A377E
c.1130C>A
1 paper
NM_000255.4
p.T382I
c.1145C>T
2 papers
NM_000255.4
p.A376delFs
c.1126_1127delGC
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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."