Varaico: Literature-Extracted Genetic Variants

Gene:PPAT
Variant:p.M1L

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
1 paper
NM_002703.5
p.M1L
c.1A>C
Surrounding Variants
1 paper
NM_002703.5
p.M1L
c.1A>T
1 paper
NM_002703.5
p.M1V
c.1A>G
1 paper
NM_002703.5
p.E11E
c.33A>G
1 paper
NM_002703.5
p.V14E
c.41T>A
1 paper
NM_002703.5
p.V14_F15insFs
c.42_43ins5
1 paper
NM_002703.5
p.A19T
c.55G>A
1 paper
NM_002703.5
p.W23R
c.67T>C
1 paper
NM_002703.5
p.L27L
c.81G>A
1 paper
NM_002703.5
p.D28V
c.83A>T
1 paper
NM_002703.5
p.V29V
c.87A>T
1 paper
NM_002703.5
p.V32A
c.95T>C
1 paper
NM_002703.5
p.L37L
c.111C>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."