Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.V97L

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.V97L
c.289G>C
Surrounding Variants
1 paper
NM_000194.3
p.V97insFs
c.289_290insA
1 paper
NM_000194.3
p.V97fs
c.289_290fs
1 paper
NM_000194.3
p.V97E
c.290T>A
1 paper
NM_000194.3
p.T96_V97insFs
c.288_289insA
1 paper
NM_000194.3
p.D98delFs
c.292_293delGA
1 paper
NM_000194.3
p.V97delFs
c.289delG
2 papers
NM_000194.3
p.T96_V97delFs
c.288_289delTG
2 papers
NM_000194.3
p.D98N
c.292G>A
1 paper
NM_000194.3
p.D98H
c.292G>C
1 paper
NM_000194.3
p.D98Y
c.292G>T
1 paper
NM_000194.3
p.F99insFs
c.297dupT
4 papers
NM_000194.3
p.D98G
c.293A>G
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