Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.M261T

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.M261T
c.782T>C
Surrounding Variants
1 paper
NM_014324.6
p.K251_S260del10
c.751_779del30
1 paper
NM_014324.6
p.Q258_S260del3
c.772_779del9
1 paper
NM_014324.6
p.E254_S260del7
c.760_779del21
1 paper
NM_014324.6
p.S252_S260del9
c.754_779del27
1 paper
NM_014324.6
p.S252_M261del10
c.754_782del30
1 paper
NM_014324.6
p.D253_M259del7
c.757_776del21
1 paper
NM_014324.6
p.G249_M259del11
c.745_776del33
1 paper
NM_014324.6
p.D253_Q258del6
c.757_773del18
1 paper
NM_014324.6
p.S252_Q258del7
c.754_773del21
1 paper
NM_014324.6
p.D263del1
c.787_788delATC
1 paper
NM_014324.6
p.L255_N257del3
c.763_770del9
1 paper
NM_014324.6
p.E254_N257del4
c.760_770del12
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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."