Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.H60N

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.H60N
c.178C>A
Surrounding Variants
1 paper
NM_000194.3
p.H60Y
c.178C>T
8 papers
NM_000194.3
p.H60R
c.179A>G
1 paper
NM_000194.3
p.G59G
c.177C>T
1 paper
NM_000194.3
p.H61R
c.182A>G
1 paper
NM_000194.3
p.H61Q
c.183C>A
2 papers
NM_000194.3
p.G58R
c.172G>A
2 papers
NM_000194.3
p.G58R
c.172G>C
1 paper
NM_000194.3
p.G58*
c.172G>T
1 paper
NM_000194.3
p.M57K
c.170T>A
1 paper
NM_000194.3
p.M57T
c.170T>C
1 paper
NM_000194.3
p.I62M
c.186T>G
1 paper
NM_000194.3
p.M57V
c.169A>G
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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."