Varaico: Literature-Extracted Genetic Variants

Gene:GMPR
Variant:p.A229T

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.A229T
c.685G>A
Surrounding Variants
1 paper
NM_006877.4
p.A231D
c.692C>A
1 paper
NM_006877.4
p.T223M
c.668C>T
1 paper
NM_006877.4
p.A234P
c.700G>C
1 paper
NM_006877.4
p.S246L
c.737C>T
7 papers
NM_006877.4
p.F256I
c.766T>A
1 paper
NM_006877.4
p.Y285_R286insFs
c.855_856dupCA
1 paper
NM_006877.4
p.S200insFs
c.599dupG
1 paper
NM_006877.4
p.R189H
c.566G>A
1 paper
NM_006877.4
p.T188A
c.562A>G
1 paper
NM_006877.4
p.G183Splc
c.548-202C>A
1 paper
NM_006877.4
p.E289K
c.865G>A
1 paper
NM_006877.4
p.E289Q
c.865G>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."