Varaico: Literature-Extracted Genetic Variants

Gene:QPRT
Variant:p.M1insFs

QPRT

41 papers

RefSeq Summary

This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neu...

Pfam Domains

QRPTase_Caa 30–136UCSCQuinolinate phosphoribosyl transferase, C-terminal domain
QRPTase_Naa 32–112UCSCQuinolinate phosphoribosyl transferase, N-terminal domain
QRPTase_Naa 32–112UCSCQuinolinate phosphoribosyl transferase, N-terminal domain

Gene Aliases

HGNC Name

quinolinate phosphoribosyltransferase

HGNC Alias Symbol

QPRTase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014298.6
p.M1insFs
c.2dupT
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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."