Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.R208Q

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.R208Q
c.623G>A
Surrounding Variants
1 paper
NM_014324.6
p.Q210*
c.628C>T
1 paper
NM_014324.6
p.N211S
c.632A>G
1 paper
NM_014324.6
p.L203L
c.607C>T
1 paper
NM_014324.6
p.L201fs
c.601_602fs
1 paper
NM_014324.6
p.L201insFs
c.602_603insC
9 papers
NM_014324.6
p.L201S
c.602T>C
1 paper
NM_014324.6
p.P218fs
c.652_653fs
1 paper
NM_014324.6
p.F219F
c.657C>T
1 paper
NM_014324.6
p.T221M
c.662C>T
1 paper
NM_014324.6
p.S193ins1
c.577_578insGCC
1 paper
NM_014324.6
p.Y223*
c.669C>G
1 paper
NM_014324.6
p.Y223*
c.669C>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."