Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.N203_H204Splc

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.N203_H204Splc
c.610-1G>C
Surrounding Variants
12 papers
NM_000194.3
p.N203_H204Splc
c.610-1G>A
2 papers
NM_000194.3
p.N203_H204Splc
c.610-1G>T
2 papers
NM_000194.3
p.N203_H204Splc
c.610-2A>G
3 papers
NM_000194.3
p.N203_H204Splc
c.610-2A>T
8 papers
NM_000194.3
p.H204D
c.610C>G
7 papers
NM_000194.3
p.H204Y
c.610C>T
2 papers
NM_000194.3
p.H204delFs
c.611delA
6 papers
NM_000194.3
p.H204R
c.611A>G
3 papers
NM_000194.3
p.H204L
c.611A>T
1 paper
NM_000194.3
p.N203_H204Splc
c.610-3T>A
2 papers
NM_000194.3
p.N203_H204Splc
c.610-3T>G
1 paper
NM_000194.3
p.H204Q
c.612T>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."