Varaico: Literature-Extracted Genetic Variants

Gene:GUK1

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
1–12 of 71 variants
2 papers
NM_001159390.2
p.V128M
c.382G>A
2 papers
NM_001159390.2
p.R156Q
c.467G>A
2 papers
NM_001159390.2
p.D176H
c.526G>C
1 paper
NM_001159390.2
p.M1_L2insFs
c.3_4ins25
1 paper
NM_001159390.2
p.M1R
c.2T>G
1 paper
NM_001159390.2
p.M1I
c.3G>A
1 paper
NM_001159390.2
p.M1_L2insFs
c.3_4ins8
1 paper
NM_001159390.2
p.R3_R4ins8
c.7_11ins24
1 paper
NM_001159390.2
p.P5S
c.13C>T
1 paper
NM_001159390.2
p.P5L
c.14C>T
1 paper
NM_001159390.2
p.A11T
c.31G>A
1 paper
NM_001159390.2
p.L14Q
c.41T>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."