Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L68R

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
2 papers
NM_000194.3
p.L68R
c.203T>G
Surrounding Variants
1 paper
NM_000194.3
p.L68H
c.203T>A
7 papers
NM_000194.3
p.L68P
c.203T>C
1 paper
NM_000194.3
p.L68delFs
c.204delC
6 papers
NM_000194.3
p.L68F
c.202C>T
1 paper
NM_000194.3
p.K69E
c.205A>G
1 paper
NM_000194.3
p.K69*
c.205A>T
12 papers
NM_000194.3
p.G71insFs
c.212dupG
2 papers
NM_000194.3
p.K69M
c.206A>T
1 paper
NM_000194.3
p.G71delFs
c.212delG
1 paper
NM_000194.3
p.V67A
c.200T>C
1 paper
NM_000194.3
p.V67fs
c.199_200fs
8 papers
NM_000194.3
p.G70R
c.208G>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."