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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMACR

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 217 variants

27 papers

chr5:34007866 A>G

NM_014324.6

p.S52P

c.154T>C

CoA_transf_3

Exome: 0.1% (AC=1262, hom=0)Genome: 0.0% (AC=67, hom=0)68 overlapping SVs

15 papers

chr5:34004602 C>T

NM_014324.6

p.G175D

c.524G>A

CoA_transf_3

Exome: 48.5% (AC=708537, hom=182530)Genome: 38.1% (AC=57866, hom=13929)67 overlapping SVs

14 papers

chr5:33998663 C>A

NM_014324.6

p.Q239H

c.717G>T

CoA_transf_3

Exome: 13.8% (AC=200939, hom=14434)Genome: 11.4% (AC=17394, hom=1072)67 overlapping SVs

14 papers

chr5:33998663 C>G

NM_014324.6

p.Q239H

c.717G>C

CoA_transf_3

exact variant not in gnomAD67 overlapping SVs

10 papers

chr5:34007995 C>T

NM_014324.6

p.V9M

c.25G>A

CoA_transf_3

Exome: 49.0% (AC=714023, hom=184211)Genome: 41.2% (AC=62597, hom=14732)68 overlapping SVs

10 papers

chr5:33989413 C>T

NM_014324.6

p.E277K

c.829G>A

CoA_transf_3

Exome: 72.9% (AC=1064898, hom=392946)Genome: 74.0% (AC=112614, hom=42165)67 overlapping SVs

9 papers

chr5:33998778 A>G

NM_014324.6

p.L201S

c.602T>C

CoA_transf_3

Exome: 70.6% (AC=1031224, hom=366729)Genome: 73.6% (AC=111792, hom=41522)67 overlapping SVs

7 papers

chr5:34005827 A>G

NM_014324.6

p.L107P

c.320T>C

CoA_transf_3

Exome: 0.0% (AC=6, hom=0)Genome: n/a67 overlapping SVs

7 papers

chr5:33998821 C>T

NM_014324.6

p.G187R

c.559G>A

CoA_transf_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a67 overlapping SVs

6 papers

chr5:34005780 C>T

NM_014324.6

p.D123N

c.367G>A

CoA_transf_3

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)67 overlapping SVs

6 papers

chr5:33998824 C>A

NM_014324.6

p.E186*

c.556G>T

CoA_transf_3

exact variant not in gnomAD67 overlapping SVs

6 papers

chr5:33989365 A>G

NM_014324.6

p.C293R

c.877T>C

CoA_transf_3

exact variant not in gnomAD67 overlapping SVs

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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."