Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L385W

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.L385W
c.1154T>G
Surrounding Variants
1 paper
NM_000255.4
p.L385*
c.1154T>A
1 paper
NM_000255.4
p.L385fs
c.1153_1154fs
3 papers
NM_000255.4
p.L385delFs
c.1153_1154delAA
2 papers
NM_000255.4
p.L385fs
c.1153_1154fs
1 paper
NM_000255.4
p.H386N
c.1156C>A
1 paper
NM_000255.4
p.A374_L385del12
c.1120_1154del36
2 papers
NM_000255.4
p.S384F
c.1151C>T
2 papers
NM_000255.4
p.H386R
c.1157A>G
3 papers
NM_000255.4
p.Q383H
c.1149G>T
3 papers
NM_000255.4
p.Q383H
c.1149G>C
12 papers
NM_000255.4
p.T387P
c.1159A>C
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."