Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.F74C

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
4 papers
NM_000194.3
p.F74C
c.221T>G
Surrounding Variants
1 paper
NM_000194.3
p.F74S
c.221T>C
1 paper
NM_000194.3
p.F74insFs
c.221_222ins5
11 papers
NM_000194.3
p.F74L
c.222C>A
11 papers
NM_000194.3
p.F74L
c.222C>G
1 paper
NM_000194.3
p.F75delFs
c.224delT
11 papers
NM_000194.3
p.F74L
c.220T>C
3 papers
NM_000194.3
p.F74V
c.220T>G
2 papers
NM_000194.3
p.K73R
c.218A>G
2 papers
NM_000194.3
p.K73Q
c.217A>C
1 paper
NM_000194.3
p.A76T
c.226G>A
2 papers
NM_000194.3
p.Y72S
c.215A>C
12 papers
NM_000194.3
p.Y72C
c.215A>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."