Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HK3

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 147 variants

4 papers

chr5:176891140 C>T

NM_002115.3

p.R104H

c.311G>A

Hexokinase_1

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

4 papers

chr5:176889558 C>T

NM_002115.3

p.G246D

c.737G>A

Hexokinase_2

Exome: 2.4% (AC=35704, hom=521)Genome: 1.9% (AC=2880, hom=45)14 overlapping SVs

4 papers

chr5:176881509 C>T

NM_002115.3

p.R807Q

c.2420G>A

Hexokinase_2

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

3 papers

chr5:176887555 G>A

NM_002115.3

p.A499V

c.1496C>T

Hexokinase_1

Exome: 0.0% (AC=132, hom=0)Genome: 0.0% (AC=17, hom=0)14 overlapping SVs

3 papers

chr5:176887205 T>C

NM_002115.3

p.Q578R

c.1733A>G

Hexokinase_1

Exome: 1.4% (AC=20927, hom=248)Genome: 1.2% (AC=1789, hom=20)14 overlapping SVs

3 papers

chr5:176887059 C>A

NM_002115.3

p.Q600H

c.1800G>T

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

3 papers

chr5:176887059 C>G

NM_002115.3

p.Q600H

c.1800G>C

Hexokinase_1

Exome: 0.8% (AC=11879, hom=98)Genome: 0.7% (AC=1082, hom=10)14 overlapping SVs

3 papers

chr5:176881803 C>T

NM_002115.3

p.R761H

c.2282G>A

Hexokinase_2

Exome: 0.0% (AC=92, hom=0)Genome: 0.0% (AC=13, hom=0)12 overlapping SVs

2 papers

chr5:176890835 G>A

NM_002115.3

p.T174M

c.521C>T

Hexokinase_1

Exome: 0.4% (AC=6039, hom=13)Genome: 0.3% (AC=388, hom=1)14 overlapping SVs

2 papers

chr5:176890823 C>G

NM_002115.3

p.R178T

c.533G>C

Hexokinase_1

Exome: 0.0% (AC=635, hom=5)Genome: 0.0% (AC=31, hom=0)14 overlapping SVs

2 papers

chr5:176889690 C>T

NM_002115.3

p.G229S

c.685G>A

Hexokinase_1

Exome: 0.1% (AC=808, hom=6)Genome: 0.0% (AC=50, hom=0)14 overlapping SVs

2 papers

chr5:176889460 C>T

NM_002115.3

p.D279N

c.835G>A

Hexokinase_2

Exome: 0.1% (AC=1455, hom=11)Genome: 0.1% (AC=116, hom=0)14 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."