Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.E56K

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.E56K
c.166G>A
Surrounding Variants
2 papers
NM_000194.3
p.E56*
c.166G>T
1 paper
NM_000194.3
p.K55_E56ins6
c.163_167ins18
1 paper
NM_000194.3
p.M57V
c.169A>G
3 papers
NM_000194.3
p.K55*
c.163A>T
2 papers
NM_000194.3
p.M54I
c.162G>A
1 paper
NM_000194.3
p.M57K
c.170T>A
1 paper
NM_000194.3
p.M57T
c.170T>C
3 papers
NM_000194.3
p.M54L
c.160A>C
3 papers
NM_000194.3
p.M54L
c.160A>T
2 papers
NM_000194.3
p.G58R
c.172G>A
2 papers
NM_000194.3
p.G58R
c.172G>C
1 paper
NM_000194.3
p.G58*
c.172G>T
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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."