Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.D52E

HPRT1

434 papers

RefSeq Summary

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group...

Pfam Domains

Pribosyltranaa 38–196UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

hypoxanthine phosphoribosyltransferase 1

HGNC Alias Symbol

HGPRT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000194.3
p.D52E
c.156T>A
Surrounding Variants
2 papers
NM_000194.3
p.D52delFs
c.156delT
1 paper
NM_000194.3
p.D52H
c.154G>C
1 paper
NM_000194.3
p.V53E
c.158T>A
2 papers
NM_000194.3
p.V53A
c.158T>C
1 paper
NM_000194.3
p.V53G
c.158T>G
3 papers
NM_000194.3
p.M54L
c.160A>C
3 papers
NM_000194.3
p.M54L
c.160A>T
6 papers
NM_000194.3
p.R51Q
c.152G>A
2 papers
NM_000194.3
p.R51P
c.152G>C
1 paper
NM_000194.3
p.R51L
c.152G>T
2 papers
NM_000194.3
p.R51G
c.151C>G
31 papers
NM_000194.3
p.R51*
c.151C>T
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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."