Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.S52P

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
27 papers
NM_014324.6
p.S52P
c.154T>C
Surrounding Variants
1 paper
NM_014324.6
p.S52*
c.155C>A
1 paper
NM_014324.6
p.S52S
c.156G>C
1 paper
NM_014324.6
p.K50R
c.149A>G
1 paper
NM_014324.6
p.L55insFs
c.164_165insG
1 paper
NM_014324.6
p.D56G
c.167A>G
1 paper
NM_014324.6
p.K58Q
c.172A>C
2 papers
NM_014324.6
p.K58R
c.173A>G
1 paper
NM_014324.6
p.D42E
c.126C>G
1 paper
NM_014324.6
p.D42E
c.126C>A
1 paper
NM_014324.6
p.A63P
c.187G>C
1 paper
NM_014324.6
p.S39F
c.116C>T
1 paper
NM_014324.6
p.L66insFs
c.197dupT
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