Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.V9_I10Splc

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.V9_I10Splc
c.27+1G>A
Surrounding Variants
12 papers
NM_000194.3
p.V9_I10Splc
c.27+1G>T
3 papers
NM_000194.3
p.V9_I10Splc
c.27+2T>A
1 paper
NM_000194.3
p.V9_I10Splc
c.27+2T>G
1 paper
NM_000194.3
p.V9M
c.25G>A
1 paper
NM_000194.3
p.V8V
c.24C>T
6 papers
NM_000194.3
p.V9_I10Splc
c.27+5G>A
1 paper
NM_000194.3
p.V9_I10Splc
c.27+5G>T
2 papers
NM_000194.3
p.V8D
c.23T>A
1 paper
NM_000194.3
p.G7G
c.21C>T
1 paper
NM_000194.3
p.G7D
c.20G>A
1 paper
NM_000194.3
p.G7Fs
c.20delinsGAFs
2 papers
NM_000194.3
p.V8del1
c.22_23delGTC
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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."