Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.D181Y

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.D181Y
c.541G>T
Surrounding Variants
1 paper
NM_014324.6
p.I180V
c.538A>G
2 papers
NM_014324.6
p.A182insFs
c.545_546insA
1 paper
NM_014324.6
p.N183Y
c.547A>T
1 paper
NM_014324.6
p.N183D
c.547A>G
15 papers
NM_014324.6
p.G175D
c.524G>A
1 paper
NM_014324.6
p.T174S
c.520A>T
1 paper
NM_014324.6
p.R171H
c.512G>A
2 papers
NM_014324.6
p.R171C
c.511C>T
1 paper
NM_014324.6
p.M166V
c.496A>G
1 paper
NM_014324.6
p.I165V
c.493A>G
1 paper
NM_014324.6
p.I164_I165insG
c.490_494ins3
1 paper
NM_014324.6
p.A161T
c.481G>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."