Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.I100S

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.I100S
c.299T>G
Surrounding Variants
3 papers
NM_000194.3
p.I100N
c.299T>A
1 paper
NM_000194.3
p.I100insFs
c.298_299insT
1 paper
NM_000194.3
p.I100L
c.298A>C
1 paper
NM_000194.3
p.R101*
c.301A>T
1 paper
NM_000194.3
p.F99L
c.297T>A
1 paper
NM_000194.3
p.F99L
c.297T>G
1 paper
NM_000194.3
p.R101R
c.303A>G
1 paper
NM_000194.3
p.F99L
c.295T>C
5 papers
NM_000194.3
p.F99V
c.295T>G
1 paper
NM_000194.3
p.L102L
c.304C>T
1 paper
NM_000194.3
p.D98E
c.294T>A
1 paper
NM_000194.3
p.D98E
c.294T>G
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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."