Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.V67fs

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.V67fs
c.199_200fs
Surrounding Variants
1 paper
NM_000194.3
p.C66*
c.198T>A
1 paper
NM_000194.3
p.V67A
c.200T>C
1 paper
NM_000194.3
p.C66W
c.198T>G
3 papers
NM_000194.3
p.C66Y
c.197G>A
1 paper
NM_000194.3
p.C66S
c.197G>C
1 paper
NM_000194.3
p.C66insFs
c.198dupT
1 paper
NM_000194.3
p.C66F
c.197G>T
6 papers
NM_000194.3
p.L68F
c.202C>T
1 paper
NM_000194.3
p.C66fs
c.196_197fs
1 paper
NM_000194.3
p.L65L
c.195C>T
1 paper
NM_000194.3
p.L68H
c.203T>A
7 papers
NM_000194.3
p.L68P
c.203T>C
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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."