Varaico: Literature-Extracted Genetic Variants

Gene:GMPR
Variant:p.Y285_R286insFs

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.Y285_R286insFs
c.855_856dupCA
Surrounding Variants
7 papers
NM_006877.4
p.F256I
c.766T>A
1 paper
NM_006877.4
p.S246L
c.737C>T
1 paper
NM_006877.4
p.A234P
c.700G>C
1 paper
NM_006877.4
p.E289K
c.865G>A
1 paper
NM_006877.4
p.E289Q
c.865G>C
1 paper
NM_006877.4
p.D300V
c.899A>T
1 paper
NM_006877.4
p.K323fs
c.967_968fs
1 paper
NM_006877.4
p.K323insFs
c.968_969ins4
1 paper
NM_006877.4
p.K325fs
c.973_974fs
1 paper
NM_006877.4
p.T337ins1
c.1009_1010insGCT
1 paper
NM_006877.4
p.Q339*
c.1015C>T
1 paper
NM_006877.4
p.A231D
c.692C>A
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