Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.R87G

APRT

138 papers

RefSeq Summary

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes th...

Pfam Domains

Pribosyltranaa 28–174UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

adenine phosphoribosyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000485.3
p.R87G
c.259C>G
Surrounding Variants
2 papers
NM_000485.3
p.R87*
c.259C>T
1 paper
NM_000485.3
p.R87ins3
c.259_260ins9
1 paper
NM_000485.3
p.R87insFs
c.259_260ins4
1 paper
NM_000485.3
p.R87Q
c.260G>A
1 paper
NM_000485.3
p.K88fs
c.262_263fs
2 papers
NM_000485.3
p.I86_R87insFs
c.258_261dup4
2 papers
NM_000485.3
p.K88N
c.264G>T
1 paper
NM_000485.3
p.K88fs
c.262_263fs
2 papers
NM_000485.3
p.K88N
c.264G>C
3 papers
NM_000485.3
p.R89Q
c.266G>A
5 papers
NM_000485.3
p.V84M
c.250G>A
1 paper
NM_000485.3
p.G90E
c.269G>A
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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."