Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.M54I

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.M54I
c.162G>A
Surrounding Variants
1 paper
NM_000194.3
p.K55_E56ins6
c.163_167ins18
3 papers
NM_000194.3
p.K55*
c.163A>T
3 papers
NM_000194.3
p.M54L
c.160A>C
3 papers
NM_000194.3
p.M54L
c.160A>T
1 paper
NM_000194.3
p.E56K
c.166G>A
2 papers
NM_000194.3
p.E56*
c.166G>T
1 paper
NM_000194.3
p.V53E
c.158T>A
2 papers
NM_000194.3
p.V53A
c.158T>C
1 paper
NM_000194.3
p.V53G
c.158T>G
1 paper
NM_000194.3
p.D52E
c.156T>A
1 paper
NM_000194.3
p.M57V
c.169A>G
2 papers
NM_000194.3
p.D52delFs
c.156delT
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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."