Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y81*

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
2 papers
NM_000194.3
p.Y81*
c.243C>A
Surrounding Variants
1 paper
NM_000194.3
p.Y81*
c.243C>G
1 paper
NM_000194.3
p.I82_A84del3
c.244_251del9
1 paper
NM_000194.3
p.Y81S
c.242A>C
1 paper
NM_000194.3
p.Y81C
c.242A>G
1 paper
NM_000194.3
p.I82N
c.245T>A
2 papers
NM_000194.3
p.Y81H
c.241T>C
1 paper
NM_000194.3
p.I82S
c.245T>G
1 paper
NM_000194.3
p.K83E
c.247A>G
5 papers
NM_000194.3
p.D80V
c.239A>T
1 paper
NM_000194.3
p.K83*
c.247A>T
1 paper
NM_000194.3
p.D80N
c.238G>A
4 papers
NM_000194.3
p.D80H
c.238G>C
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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."