Varaico: Literature-Extracted Genetic Variants

Gene:PPAT
Variant:p.A410S

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.A410S
c.1228G>T
Surrounding Variants
2 papers
NM_002703.5
p.E412E
c.1236G>A
1 paper
NM_002703.5
p.T397A
c.1189A>G
1 paper
NM_002703.5
p.V388V
c.1164A>G
1 paper
NM_002703.5
p.L387H
c.1160T>A
1 paper
NM_002703.5
p.K381R
c.1142A>G
1 paper
NM_002703.5
p.F373fs
c.1117_1118fs
1 paper
NM_002703.5
p.V369delFs
c.1105delC
1 paper
NM_002703.5
p.R363K
c.1088G>A
1 paper
NM_002703.5
p.P360A
c.1078C>G
1 paper
NM_002703.5
p.R351Q
c.1052G>A
3 papers
NM_002703.5
p.R351W
c.1051C>T
1 paper
NM_002703.5
p.N350T
c.1049A>C
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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."