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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HK3

Variant:p.T174A

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

Selected Variant

1 paper

chr5:176890836 T>C

NM_002115.3

p.T174A

c.520A>G

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

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

1 paper

chr5:176890832 C>T

NM_002115.3

p.G175D

c.524G>A

Hexokinase_1

Exome: 0.0% (AC=191, hom=0)Genome: 0.0% (AC=12, 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

1 paper

chr5:176890898 G>A

NM_002115.3

p.A153V

c.458C>T

Hexokinase_1

Exome: 0.0% (AC=439, hom=3)Genome: 0.3% (AC=424, hom=3)14 overlapping SVs

1 paper

chr5:176890918 G>A

NM_002115.3

p.C146C

c.438C>T

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

1 paper

chr5:176890666 T>TG

NM_002115.3

p.V199insFs

c.597dupC

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

1 paper

chr5:176890646 G>A

NM_002115.3

p.R207W

c.619C>T

Hexokinase_1

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

1 paper

chr5:176891085 G>C

NM_002115.3

p.S122R

c.366C>G

Hexokinase_1

Exome: 0.0% (AC=11, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr5:176891085 G>T

NM_002115.3

p.S122R

c.366C>A

Hexokinase_1

Exome: 0.1% (AC=1174, hom=2)Genome: 0.0% (AC=61, hom=0)14 overlapping SVs

1 paper

chr5:176891087 T>G

NM_002115.3

p.S122R

c.364A>C

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

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

1 paper

chr5:176891147 A>C

NM_002115.3

p.S102A

c.304T>G

Hexokinase_1

exact variant not in gnomAD14 overlapping SVs

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