Varaico: Literature-Extracted Genetic Variants

Gene:GUK1
Variant:p.Q157P

GUK1

110 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is tho...

Pfam Domains

Guanylate_kinaa 3–188UCSCGuanylate kinase
Guanylate_kinaa 3–188UCSCGuanylate kinase

Gene Aliases

HGNC Name

guanylate kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001159390.2
p.Q157P
c.470A>C
Surrounding Variants
2 papers
NM_001159390.2
p.R156Q
c.467G>A
1 paper
NM_001159390.2
p.L155L
c.463C>T
1 paper
NM_001159390.2
p.E152A
c.455A>C
1 paper
NM_001159390.2
p.L151_E152Splc
c.454-2A>G
1 paper
NM_001159390.2
p.A173D
c.518C>A
1 paper
NM_001159390.2
p.A173A
c.519C>T
2 papers
NM_001159390.2
p.D176H
c.526G>C
1 paper
NM_001159390.2
p.L151V
c.451C>G
1 paper
NM_001159390.2
p.I131delins
c.391_392delinsTT
1 paper
NM_001159390.2
p.I131_A133del0
c.392_397del6
1 paper
NM_001159390.2
p.R129W
c.385C>T
2 papers
NM_001159390.2
p.V128M
c.382G>A
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