Varaico: Literature-Extracted Genetic Variants

Gene:GMPR2
Variant:p.G193R

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
Selected Variant
1 paper
NM_001002002.3
p.G193R
c.577G>C
Surrounding Variants
1 paper
NM_001002002.3
p.G193R
c.577G>A
1 paper
NM_001002002.3
p.G193V
c.578G>T
1 paper
NM_001002002.3
p.G211S
c.631G>A
1 paper
NM_001002002.3
p.G211R
c.631G>C
2 papers
NM_001002002.3
p.G214D
c.641G>A
1 paper
NM_001002002.3
p.M240I
c.720G>A
1 paper
NM_001002002.3
p.M240I
c.720G>C
1 paper
NM_001002002.3
p.M240I
c.720G>T
1 paper
NM_001002002.3
p.G242D
c.725G>A
1 paper
NM_001002002.3
p.E254K
c.760G>A
2 papers
NM_001002002.3
p.G260D
c.779G>A
1 paper
NM_001002002.3
p.M269I
c.807G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."