Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.V9M

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
10 papers
NM_014324.6
p.V9M
c.25G>A
Surrounding Variants
1 paper
NM_014324.6
p.E10G
c.29A>G
1 paper
NM_014324.6
p.S7W
c.20C>G
1 paper
NM_014324.6
p.L11L
c.31C>T
1 paper
NM_014324.6
p.S12S
c.36C>T
1 paper
NM_014324.6
p.Q4H
c.12G>C
1 paper
NM_014324.6
p.Q4Q
c.12G>A
1 paper
NM_014324.6
p.Q4*
c.10C>T
1 paper
NM_014324.6
p.Q4K
c.10C>A
1 paper
NM_014324.6
p.L3insFs
c.8_9insT
1 paper
NM_014324.6
p.L3V
c.7C>G
1 paper
NM_014324.6
p.A15delFs
c.43delC
1 paper
NM_014324.6
p.M1I
c.3G>T
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."