Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.T211fs

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.T211fs
c.631_632fs
Surrounding Variants
4 papers
NM_000194.3
p.G212delFs
c.635delG
1 paper
NM_000194.3
p.E210K
c.628G>A
1 paper
NM_000194.3
p.G212R
c.634G>C
4 papers
NM_000194.3
p.T211delFs
c.631delA
2 papers
NM_000194.3
p.G212E
c.635G>A
1 paper
NM_000194.3
p.S209fs
c.625_626fs
1 paper
NM_000194.3
p.K213E
c.637A>G
1 paper
NM_000194.3
p.K213*
c.637A>T
1 paper
NM_000194.3
p.K213_A214insFs
c.639_640insCA
1 paper
NM_000194.3
p.K213ins1
c.638_639insGCC
1 paper
NM_000194.3
p.I208N
c.623T>A
1 paper
NM_000194.3
p.K215*
c.643A>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."