Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.C66insFs

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.C66insFs
c.198dupT
Surrounding Variants
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.C66F
c.197G>T
1 paper
NM_000194.3
p.C66*
c.198T>A
1 paper
NM_000194.3
p.C66W
c.198T>G
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.V67fs
c.199_200fs
10 papers
NM_000194.3
p.L65P
c.194T>C
1 paper
NM_000194.3
p.V67A
c.200T>C
5 papers
NM_000194.3
p.L65F
c.193C>T
6 papers
NM_000194.3
p.L68F
c.202C>T
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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."