Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y216delFs

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.Y216delFs
c.648delC
Surrounding Variants
1 paper
NM_000194.3
p.Y216C
c.647A>G
2 papers
NM_000194.3
p.Y216*
c.648C>A
2 papers
NM_000194.3
p.Y216*
c.648C>G
1 paper
NM_000194.3
p.K217delFs
c.651delA
1 paper
NM_000194.3
p.K217Q
c.649A>C
4 papers
NM_000194.3
p.K217*
c.649A>T
1 paper
NM_000194.3
p.K215N
c.645A>T
1 paper
NM_000194.3
p.K215*
c.643A>T
1 paper
NM_000194.3
p.A218T
c.652G>A
1 paper
NM_000194.3
p.A218fs
c.652_653fs
1 paper
NM_000194.3
p.A218G
c.653C>G
1 paper
NM_000194.3
p.A218V
c.653C>T
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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."