Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.K166R

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.K166R
c.497A>G
Surrounding Variants
1 paper
NM_000194.3
p.K166E
c.496A>G
1 paper
NM_000194.3
p.K166*
c.496A>T
1 paper
NM_000194.3
p.R167fs
c.499_500fs
3 papers
NM_000194.3
p.R167G
c.499A>G
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.V165E
c.494T>A
1 paper
NM_000194.3
p.V165G
c.494T>G
2 papers
NM_000194.3
p.P169insFs
c.506_507insC
5 papers
NM_000194.3
p.T168I
c.503C>T
1 paper
NM_000194.3
p.L164P
c.491T>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."