Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R4fs

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.R4fs
c.10_11fs
Surrounding Variants
1 paper
NM_000194.3
p.R4H
c.11G>A
1 paper
NM_000194.3
p.T3N
c.8C>A
1 paper
NM_000194.3
p.R4R
c.12C>A
1 paper
NM_000194.3
p.T3S
c.7A>T
1 paper
NM_000194.3
p.S5N
c.14G>A
1 paper
NM_000194.3
p.P6delFs
c.16delC
1 paper
NM_000194.3
p.A2T
c.4G>A
1 paper
NM_000194.3
p.A2Fs
c.4delinsGCCFs
4 papers
NM_000194.3
p.M1I
c.3G>A
1 paper
NM_000194.3
p.M1I
c.3G>C
1 paper
NM_000194.3
p.A2insFs
c.5_6ins4
1 paper
NM_000194.3
p.M1_A2insFs
c.3_4insT
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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."