Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.L107P

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
7 papers
NM_014324.6
p.L107P
c.320T>C
Surrounding Variants
1 paper
NM_014324.6
p.S108R
c.322A>C
1 paper
NM_014324.6
p.S108R
c.324T>G
1 paper
NM_014324.6
p.S108R
c.324T>A
1 paper
NM_014324.6
p.S113L
c.338C>T
1 paper
NM_014324.6
p.E98*
c.292G>T
1 paper
NM_014324.6
p.C117C
c.351C>T
1 paper
NM_014324.6
p.C117*
c.351C>A
1 paper
NM_014324.6
p.I94_Q96del3
c.280_287del9
1 paper
NM_014324.6
p.R118Q
c.353G>A
1 paper
NM_014324.6
p.R118R
c.354G>A
1 paper
NM_014324.6
p.L119fs
c.355_356fs
1 paper
NM_014324.6
p.L95Q
c.284T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."