Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.E277K

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
10 papers
NM_014324.6
p.E277K
c.829G>A
Surrounding Variants
1 paper
NM_014324.6
p.A276P
c.826G>C
1 paper
NM_014324.6
p.A276T
c.826G>A
1 paper
NM_014324.6
p.A272_T279del0
c.816_836del21
1 paper
NM_014324.6
p.A281A
c.843A>G
5 papers
NM_014324.6
p.E282Q
c.844G>C
1 paper
NM_014324.6
p.A272T
c.814G>A
1 paper
NM_014324.6
p.P265_F271del7
c.793_812del21
1 paper
NM_014324.6
p.W283*
c.849G>A
1 paper
NM_014324.6
p.K269fs
c.805_806fs
1 paper
NM_014324.6
p.D263_K268del6
c.787_803del18
1 paper
NM_014324.6
p.I286fs
c.856_857fs
1 paper
NM_014324.6
p.I286delFs
c.857delA
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