Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.L119fs

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.L119fs
c.355_356fs
Surrounding Variants
1 paper
NM_014324.6
p.R118R
c.354G>A
1 paper
NM_014324.6
p.R118Q
c.353G>A
1 paper
NM_014324.6
p.C117C
c.351C>T
1 paper
NM_014324.6
p.C117*
c.351C>A
2 papers
NM_014324.6
p.H122Y
c.364C>T
6 papers
NM_014324.6
p.D123N
c.367G>A
1 paper
NM_014324.6
p.S113L
c.338C>T
1 paper
NM_014324.6
p.N125H
c.373A>C
1 paper
NM_014324.6
p.N125I
c.374A>T
1 paper
NM_014324.6
p.A128G
c.383C>G
1 paper
NM_014324.6
p.L129L
c.385T>C
1 paper
NM_014324.6
p.S108R
c.324T>G
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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."