Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y174*

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.Y174*
c.522T>A
Surrounding Variants
2 papers
NM_000194.3
p.Y174*
c.522T>G
1 paper
NM_000194.3
p.K175*
c.523A>T
2 papers
NM_000194.3
p.P176S
c.526C>T
1 paper
NM_000194.3
p.P176R
c.527C>G
3 papers
NM_000194.3
p.P176L
c.527C>T
1 paper
NM_000194.3
p.D177Y
c.529G>T
1 paper
NM_000194.3
p.D177G
c.530A>G
2 papers
NM_000194.3
p.D177V
c.530A>T
1 paper
NM_000194.3
p.D177E
c.531C>A
1 paper
NM_000194.3
p.F178L
c.532T>C
1 paper
NM_000194.3
p.S171insFs
c.511_512insGT
1 paper
NM_000194.3
p.S171delFs
c.512delG
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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."