Varaico: Literature-Extracted Genetic Variants

Gene:PPAT
Variant:p.Q488*

PPAT

94 papers

RefSeq Summary

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide ...

Pfam Domains

GATase_6aa 71–215UCSCGlutamine amidotransferase domain
Pribosyltranaa 328–419UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate amidotransferase

HGNC Alias Symbol

PRAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002703.5
p.Q488*
c.1462C>T
Surrounding Variants
1 paper
NM_002703.5
p.E489G
c.1466A>G
1 paper
NM_002703.5
p.D484N
c.1450G>A
1 paper
NM_002703.5
p.K481_K482ins4
c.1441_1445ins12
1 paper
NM_002703.5
p.H502H
c.1506T>C
1 paper
NM_002703.5
p.L507F
c.1519C>T
1 paper
NM_002703.5
p.G453R
c.1357G>C
1 paper
NM_002703.5
p.G453R
c.1357G>A
1 paper
NM_002703.5
p.L452R
c.1355T>G
1 paper
NM_002703.5
p.R416P
c.1247G>C
1 paper
NM_002703.5
p.V413E
c.1238T>A
2 papers
NM_002703.5
p.E412E
c.1236G>A
1 paper
NM_002703.5
p.A410S
c.1228G>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."