Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.L817fs

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.L817fs
c.2449_2450fs
Surrounding Variants
1 paper
NM_002115.3
p.L817delFs
c.2450delA
4 papers
NM_002115.3
p.R807Q
c.2420G>A
2 papers
NM_002115.3
p.Q805K
c.2413C>A
2 papers
NM_002115.3
p.Q830P
c.2489A>C
1 paper
NM_002115.3
p.A802V
c.2405C>T
1 paper
NM_002115.3
p.V832_V844Fs
c.2496_2532delinsCAGATGCTCACCTGTGGGTGFs
1 paper
NM_002115.3
p.R852W
c.2554C>T
1 paper
NM_002115.3
p.E858D
c.2574A>T
1 paper
NM_002115.3
p.E858D
c.2574A>C
1 paper
NM_002115.3
p.A861T
c.2581G>A
1 paper
NM_002115.3
p.R876H
c.2627G>A
2 papers
NM_002115.3
p.E797K
c.2389G>A
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