Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.E98*

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.E98*
c.292G>T
Surrounding Variants
1 paper
NM_014324.6
p.I94_Q96del3
c.280_287del9
1 paper
NM_014324.6
p.L95Q
c.284T>A
1 paper
NM_014324.6
p.Q89_G91delFs
c.265_271del7
1 paper
NM_014324.6
p.L88_L90del0
c.263_268del6
1 paper
NM_014324.6
p.L90L
c.268C>T
1 paper
NM_014324.6
p.E86_L88delFs
c.258_264del7
7 papers
NM_014324.6
p.L107P
c.320T>C
1 paper
NM_014324.6
p.L88delFs
c.263delA
1 paper
NM_014324.6
p.V84_K87delFs
c.252_261del10
1 paper
NM_014324.6
p.S108R
c.322A>C
1 paper
NM_014324.6
p.K87K
c.261A>G
1 paper
NM_014324.6
p.E86_K87del1
c.258_260delTTC
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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."