Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.D288D

AMACR

243 papers

RefSeq Summary

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for d...

Pfam Domains

CoA_transf_3aa 3–350UCSCCoA-transferase family III

Gene Aliases

HGNC Name

alpha-methylacyl-CoA racemase

HGNC Alias Symbols

RACE; P504S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014324.6
p.D288D
c.864C>T
Surrounding Variants
1 paper
NM_014324.6
p.G289V
c.866G>T
1 paper
NM_014324.6
p.G289D
c.866G>A
1 paper
NM_014324.6
p.I286fs
c.856_857fs
1 paper
NM_014324.6
p.I286delFs
c.857delA
1 paper
NM_014324.6
p.T290_D291insFs
c.870_871insGT
6 papers
NM_014324.6
p.C293R
c.877T>C
1 paper
NM_014324.6
p.W283*
c.849G>A
5 papers
NM_014324.6
p.E282Q
c.844G>C
1 paper
NM_014324.6
p.A281A
c.843A>G
1 paper
NM_014324.6
p.P296P
c.888G>A
1 paper
NM_014324.6
p.A272_T279del0
c.816_836del21
10 papers
NM_014324.6
p.E277K
c.829G>A
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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."