Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.S171insFs

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.S171insFs
c.511_512insGT
Surrounding Variants
1 paper
NM_000194.3
p.S171delFs
c.512delG
3 papers
NM_000194.3
p.R170Q
c.509G>A
26 papers
NM_000194.3
p.R170*
c.508C>T
1 paper
NM_000194.3
p.R170fs
c.508_509fs
1 paper
NM_000194.3
p.P169L
c.506C>T
1 paper
NM_000194.3
p.P169S
c.505C>T
5 papers
NM_000194.3
p.T168I
c.503C>T
2 papers
NM_000194.3
p.P169insFs
c.506_507insC
5 papers
NM_000194.3
p.R167T
c.500G>C
9 papers
NM_000194.3
p.R167M
c.500G>T
2 papers
NM_000194.3
p.R167Fs
c.500_501delinsCFs
1 paper
NM_000194.3
p.Y174*
c.522T>A
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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."