Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.S68F

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.S68F
c.203C>T
Surrounding Variants
1 paper
NM_000255.4
p.I67fs
c.199_200fs
6 papers
NM_000255.4
p.I69V
c.205A>G
1 paper
NM_000255.4
p.I67S
c.200T>G
1 paper
NM_000255.4
p.I67T
c.200T>C
1 paper
NM_000255.4
p.G66delFs
c.198delC
1 paper
NM_000255.4
p.K70delFs
c.209delT
2 papers
NM_000255.4
p.K70del1
c.208_210delTTT
1 paper
NM_000255.4
p.P71L
c.212C>T
1 paper
NM_000255.4
p.E65K
c.193G>A
1 paper
NM_000255.4
p.P71P
c.213C>A
1 paper
NM_000255.4
p.K70_P71insFs
c.210_213dup4
1 paper
NM_000255.4
p.P64P
c.192G>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."