Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.R775Q

HK3

111 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric en...

Pfam Domains

Hexokinase_1aa 32–232UCSCHexokinase
Hexokinase_2aa 238–472UCSCHexokinase
Hexokinase_1aa 482–673UCSCHexokinase
Hexokinase_2aa 679–913UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 3

HGNC Alias Symbol

HKIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002115.3
p.R775Q
c.2324G>A
Surrounding Variants
1 paper
NM_002115.3
p.G776D
c.2327G>A
1 paper
NM_002115.3
p.V772I
c.2314G>A
3 papers
NM_002115.3
p.R761H
c.2282G>A
1 paper
NM_002115.3
p.S794S
c.2382T>G
1 paper
NM_002115.3
p.I796M
c.2388C>G
2 papers
NM_002115.3
p.E797K
c.2389G>A
1 paper
NM_002115.3
p.G753V
c.2258G>T
1 paper
NM_002115.3
p.G753S
c.2257G>A
1 paper
NM_002115.3
p.I751T
c.2252T>C
1 paper
NM_002115.3
p.R746Splc
c.2238-5T>C
1 paper
NM_002115.3
p.S728delFs
c.2184delG
1 paper
NM_002115.3
p.A802V
c.2405C>T
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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."