Varaico: Literature-Extracted Genetic Variants

Gene:GMPR
Variant:p.F36delFs

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.F36delFs
c.107delT
Surrounding Variants
1 paper
NM_006877.4
p.F36fs
c.106_107fs
1 paper
NM_006877.4
p.V30_D31insFs
c.90_91insG
1 paper
NM_006877.4
p.V30fs
c.88_89fs
1 paper
NM_006877.4
p.V66M
c.196G>A
1 paper
NM_006877.4
p.T74_A75ins5
c.220_224ins15
1 paper
NM_006877.4
p.T90_N91insG
c.268_272ins3
1 paper
NM_006877.4
p.Q107*
c.319C>T
1 paper
NM_006877.4
p.L110P
c.329T>C
1 paper
NM_006877.4
p.V139M
c.415G>A
1 paper
NM_006877.4
p.V145A
c.434T>C
1 paper
NM_006877.4
p.T153S
c.457A>T
1 paper
NM_006877.4
p.T153S
c.458C>G
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