Varaico: Literature-Extracted Genetic Variants

Gene:GMPR
Variant:p.D11H

GMPR

39 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and pu...

Pfam Domains

IMPDHaa 9–342UCSCIMP dehydrogenase / GMP reductase domain

Gene Aliases

HGNC Name

guanosine monophosphate reductase

HGNC Alias Symbols

GMPR1; hGMPR-I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006877.4
p.D11H
c.31G>C
Surrounding Variants
1 paper
NM_006877.4
p.K25fs
c.73_74fs
2 papers
NM_006877.4
p.A28_E29insFs
c.83_87dup5
1 paper
NM_006877.4
p.V30fs
c.88_89fs
1 paper
NM_006877.4
p.V30_D31insFs
c.90_91insG
1 paper
NM_006877.4
p.F36delFs
c.107delT
1 paper
NM_006877.4
p.F36fs
c.106_107fs
1 paper
NM_006877.4
p.V66M
c.196G>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."