Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.E254_L255del2

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.E254_L255del2
c.760_764del6
Surrounding Variants
1 paper
NM_014324.6
p.S252_L255del4
c.754_764del12
1 paper
NM_014324.6
p.K251_L255del5
c.751_764del15
1 paper
NM_014324.6
p.G249_L255del7
c.745_764del21
1 paper
NM_014324.6
p.L250_E254del5
c.748_761del15
1 paper
NM_014324.6
p.S252_E254del3
c.754_761del9
1 paper
NM_014324.6
p.K251_E254del4
c.751_761del12
1 paper
NM_014324.6
p.E254_P256del3
c.760_767del9
1 paper
NM_014324.6
p.D253_P256del4
c.757_767del12
1 paper
NM_014324.6
p.S252_D253del2
c.754_758del6
1 paper
NM_014324.6
p.E254_N257del4
c.760_770del12
1 paper
NM_014324.6
p.S252_N257del6
c.754_770del18
1 paper
NM_014324.6
p.L255_N257del3
c.763_770del9
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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."