Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L79P

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.L79P
c.236T>C
Surrounding Variants
1 paper
NM_000194.3
p.D80delFs
c.238_239delGA
1 paper
NM_000194.3
p.D80N
c.238G>A
4 papers
NM_000194.3
p.D80H
c.238G>C
1 paper
NM_000194.3
p.D80delins
c.238_239delinsTT
5 papers
NM_000194.3
p.D80V
c.239A>T
7 papers
NM_000194.3
p.L78Q
c.233T>A
1 paper
NM_000194.3
p.D77E
c.231C>G
2 papers
NM_000194.3
p.Y81H
c.241T>C
1 paper
NM_000194.3
p.Y81S
c.242A>C
1 paper
NM_000194.3
p.Y81C
c.242A>G
2 papers
NM_000194.3
p.Y81*
c.243C>A
1 paper
NM_000194.3
p.Y81*
c.243C>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."