Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y72C

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
12 papers
NM_000194.3
p.Y72C
c.215A>G
Surrounding Variants
2 papers
NM_000194.3
p.Y72S
c.215A>C
1 paper
NM_000194.3
p.Y72N
c.214T>A
1 paper
NM_000194.3
p.Y72insFs
c.214_215insG
1 paper
NM_000194.3
p.Y72fs
c.214_215fs
2 papers
NM_000194.3
p.K73Q
c.217A>C
3 papers
NM_000194.3
p.G71_Y72insFs
c.213_214insG
1 paper
NM_000194.3
p.G71G
c.213C>G
2 papers
NM_000194.3
p.K73R
c.218A>G
2 papers
NM_000194.3
p.G71D
c.212G>A
1 paper
NM_000194.3
p.G71A
c.212G>C
11 papers
NM_000194.3
p.G71V
c.212G>T
1 paper
NM_000194.3
p.G71delFs
c.213delC
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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."