Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R48H

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
31 papers
NM_000194.3
p.R48H
c.143G>A
Surrounding Variants
1 paper
NM_000194.3
p.R48P
c.143G>C
1 paper
NM_000194.3
p.R48S
c.142C>A
2 papers
NM_000194.3
p.R48C
c.142C>T
1 paper
NM_000194.3
p.L49I
c.145C>A
7 papers
NM_000194.3
p.L49F
c.145C>T
6 papers
NM_000194.3
p.E47G
c.140A>G
1 paper
NM_000194.3
p.E47V
c.140A>T
3 papers
NM_000194.3
p.L49P
c.146T>C
2 papers
NM_000194.3
p.L49R
c.146T>G
1 paper
NM_000194.3
p.E47K
c.139G>A
2 papers
NM_000194.3
p.E47*
c.139G>T
2 papers
NM_000194.3
p.E47delFs
c.141delA
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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."