Varaico: Literature-Extracted Genetic Variants

Gene:HK2

HK2

245 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It ...

Pfam Domains

Hexokinase_1aa 1–191UCSCHexokinase
Hexokinase_1aa 21–219UCSCHexokinase
Hexokinase_2aa 225–459UCSCHexokinase
Hexokinase_1aa 469–667UCSCHexokinase
Hexokinase_2aa 673–907UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 2

HGNC Alias Symbol

HKII

Papers
RefSeq ID
Protein change
DNA change
1–12 of 207 variants
13 papers
NM_000189.5
p.Q142H
c.426A>C
13 papers
NM_000189.5
p.Q142H
c.426A>T
12 papers
NM_000189.5
p.R844K
c.2531G>A
10 papers
NM_000189.5
p.D657A
c.1970A>C
8 papers
NM_000189.5
p.D209A
c.626A>C
4 papers
NM_000189.5
p.R353C
c.1057C>T
4 papers
NM_000189.5
p.E646K
c.1936G>A
3 papers
NM_000189.5
p.R497Q
c.1490G>A
3 papers
NM_000189.5
p.P736L
c.2207C>T
2 papers
NM_000189.5
p.S4L
c.11C>T
2 papers
NM_000189.5
p.A53S
c.157G>T
2 papers
NM_000189.5
p.S155A
c.463T>G
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."