Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.C106_N107Splc

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.C106_N107Splc
c.318+1G>C
Surrounding Variants
1 paper
NM_000194.3
p.C106_N107Splc
c.318+1G>A
4 papers
NM_000194.3
p.C106_N107Splc
c.318+1G>T
6 papers
NM_000194.3
p.C106*
c.318T>A
1 paper
NM_000194.3
p.C106_N107Splc
c.318+2T>G
1 paper
NM_000194.3
p.Y105*
c.315T>A
2 papers
NM_000194.3
p.Y105*
c.315T>G
3 papers
NM_000194.3
p.Y105C
c.314A>G
9 papers
NM_000194.3
p.S104R
c.312C>A
7 papers
NM_000194.3
p.S104R
c.312C>G
3 papers
NM_000194.3
p.S104insFs
c.310_311insG
7 papers
NM_000194.3
p.S104R
c.310A>C
1 paper
NM_000194.3
p.S104G
c.310A>G
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