Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.L248P

DGUOK

226 papers

RefSeq Summary

In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kin...

Pfam Domains

dNKaa 41–275UCSCDeoxynucleoside kinase

Gene Aliases

HGNC Name

deoxyguanosine kinase

HGNC Alias Symbol

dGK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_080916.3
p.L248P
c.743T>C
Surrounding Variants
1 paper
NM_080916.3
p.V249delFs
c.746delT
1 paper
NM_080916.3
p.V249fs
c.745_746fs
4 papers
NM_080916.3
p.P246R
c.737C>G
1 paper
NM_080916.3
p.P246L
c.737C>T
25 papers
NM_080916.3
p.L250S
c.749T>C
1 paper
NM_080916.3
p.L250F
c.750G>C
1 paper
NM_080916.3
p.L250F
c.750G>T
1 paper
NM_080916.3
p.D251N
c.751G>A
1 paper
NM_080916.3
p.D251H
c.751G>C
1 paper
NM_080918.3
p.N156I
c.467A>T
1 paper
NM_080916.3
p.N253del1
c.757_758delAAT
2 papers
NM_080916.3
p.D255del1
c.763_764delGAT
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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."