Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L163fs

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.L163fs
c.487_488fs
Surrounding Variants
1 paper
NM_000194.3
p.L163V
c.487T>G
6 papers
NM_000194.3
p.S162R
c.486C>G
1 paper
NM_000194.3
p.L163*
c.488T>A
4 papers
NM_000194.3
p.L163S
c.488T>C
6 papers
NM_000194.3
p.S162Splc
c.486-1G>A
1 paper
NM_000194.3
p.L163L
c.489G>A
1 paper
NM_000194.3
p.S162Splc
c.486-1G>C
1 paper
NM_000194.3
p.L163F
c.489G>C
1 paper
NM_000194.3
p.S162Splc
c.486-1G>T
1 paper
NM_000194.3
p.L163F
c.489G>T
2 papers
NM_000194.3
p.S162Splc
c.486-2A>T
2 papers
NM_000194.3
p.S162Splc
c.486-3C>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."