Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.A50T

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.A50T
c.148G>A
Surrounding Variants
4 papers
NM_000194.3
p.A50P
c.148G>C
1 paper
NM_000194.3
p.A50D
c.149C>A
1 paper
NM_000194.3
p.A50G
c.149C>G
3 papers
NM_000194.3
p.L49P
c.146T>C
2 papers
NM_000194.3
p.L49R
c.146T>G
1 paper
NM_000194.3
p.L49I
c.145C>A
2 papers
NM_000194.3
p.R51G
c.151C>G
31 papers
NM_000194.3
p.R51*
c.151C>T
7 papers
NM_000194.3
p.L49F
c.145C>T
6 papers
NM_000194.3
p.R51Q
c.152G>A
2 papers
NM_000194.3
p.R51P
c.152G>C
1 paper
NM_000194.3
p.R51L
c.152G>T
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."