Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.G83_M85delFs

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.G83_M85delFs
c.249_255del7
Surrounding Variants
1 paper
NM_014324.6
p.E86K
c.256G>A
1 paper
NM_014324.6
p.M85delFs
c.254_255delCA
1 paper
NM_014324.6
p.V84_M85delFs
c.252_255del4
1 paper
NM_014324.6
p.V84_M85delFs
c.250_254del5
1 paper
NM_014324.6
p.V84_M85del1
c.252_254delATG
1 paper
NM_014324.6
p.V84_M85delFs
c.251_254del4
1 paper
NM_014324.6
p.M85_E86del1
c.254_256delCCA
1 paper
NM_014324.6
p.V84_M85delFs
c.252_253delTG
1 paper
NM_014324.6
p.E86E
c.258G>A
1 paper
NM_014324.6
p.M85_E86delFs
c.254_257del4
1 paper
NM_014324.6
p.V84_E86del0
c.252_257del6
1 paper
NM_014324.6
p.M85_E86del1
c.255_257delTCC
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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."