Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.S104R

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
7 papers
NM_000194.3
p.S104R
c.310A>C
Surrounding Variants
3 papers
NM_000194.3
p.S104insFs
c.310_311insG
1 paper
NM_000194.3
p.S104G
c.310A>G
2 papers
NM_000194.3
p.K103M
c.308A>T
9 papers
NM_000194.3
p.S104R
c.312C>A
7 papers
NM_000194.3
p.S104R
c.312C>G
2 papers
NM_000194.3
p.K103Q
c.307A>C
2 papers
NM_000194.3
p.K103*
c.307A>T
3 papers
NM_000194.3
p.Y105C
c.314A>G
1 paper
NM_000194.3
p.L102L
c.306G>T
1 paper
NM_000194.3
p.Y105*
c.315T>A
2 papers
NM_000194.3
p.Y105*
c.315T>G
1 paper
NM_000194.3
p.L102L
c.304C>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."