Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L85P

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.L85P
c.254T>C
Surrounding Variants
1 paper
NM_000194.3
p.L85V
c.253C>G
1 paper
NM_000194.3
p.N86K
c.258T>G
1 paper
NM_000194.3
p.R87*
c.259A>T
1 paper
NM_000194.3
p.K83E
c.247A>G
1 paper
NM_000194.3
p.K83*
c.247A>T
1 paper
NM_000194.3
p.S89_D90del2
c.265_269del6
1 paper
NM_000194.3
p.I82N
c.245T>A
1 paper
NM_000194.3
p.I82S
c.245T>G
1 paper
NM_000194.3
p.N88K
c.264T>A
1 paper
NM_000194.3
p.N88K
c.264T>G
1 paper
NM_000194.3
p.S89G
c.265A>G
2 papers
NM_000194.3
p.Y81*
c.243C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."