Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.S185F

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
10 papers
NM_000255.4
p.S185F
c.554C>T
Surrounding Variants
1 paper
NM_000255.4
p.S185insFs
c.553_554insTT
7 papers
NM_000255.4
p.M186V
c.556A>G
1 paper
NM_000255.4
p.T187S
c.559A>T
1 paper
NM_000255.4
p.T187S
c.560C>G
9 papers
NM_000255.4
p.M182insFs
c.544dupA
4 papers
NM_000255.4
p.M182fs
c.544_545fs
3 papers
NM_000255.4
p.N189I
c.566A>T
4 papers
NM_000255.4
p.N189S
c.566A>G
10 papers
NM_000255.4
p.N189K
c.567T>G
4 papers
NM_000255.4
p.N189K
c.567T>A
9 papers
NM_000255.4
p.N189insFs
c.567dupT
1 paper
NM_000255.4
p.G190V
c.569G>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."