Varaico: Literature-Extracted Genetic Variants

Gene:GMPR2

GMPR2

16 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the...

Pfam Domains

IMPDHaa 9–341UCSCIMP dehydrogenase / GMP reductase domain
IMPDHaa 321–420UCSCIMP dehydrogenase / GMP reductase domain

Gene Aliases

HGNC Name

guanosine monophosphate reductase 2

HGNC Alias Symbol

hGMPR-II

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
2 papers
NM_001002002.3
p.G214D
c.641G>A
2 papers
NM_001002002.3
p.G260D
c.779G>A
1 paper
NM_001002002.3
p.V15G
c.44T>G
1 paper
NM_001002002.3
p.H98H
c.294T>C
1 paper
NM_001002002.3
p.G106G
c.318C>A
1 paper
NM_001002002.3
p.Q115R
c.344A>G
1 paper
NM_001002002.3
p.K143R
c.428A>G
1 paper
NM_001002002.3
p.H152Q
c.456C>A
1 paper
NM_001002002.3
p.G193R
c.577G>A
1 paper
NM_001002002.3
p.G193R
c.577G>C
1 paper
NM_001002002.3
p.G193V
c.578G>T
1 paper
NM_001002002.3
p.G211S
c.631G>A
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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."