Varaico: Literature-Extracted Genetic Variants

Gene:HKDC1

HKDC1

117 papers

RefSeq Summary

This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High ex...

Pfam Domains

Hexokinase_1aa 21–219UCSCHexokinase
Hexokinase_2aa 225–459UCSCHexokinase
Hexokinase_1aa 469–666UCSCHexokinase
Hexokinase_2aa 672–906UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase domain containing 1

HGNC Alias Symbols

FLJ37767; FLJ22761

Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
5 papers
NM_025130.4
p.R42Q
c.125G>A
5 papers
NM_025130.4
p.T124I
c.371C>T
4 papers
NM_025130.4
p.T58M
c.173C>T
4 papers
NM_025130.4
p.H420Y
c.1258C>T
4 papers
NM_025130.4
p.N917K
c.2751C>A
4 papers
NM_025130.4
p.N917K
c.2751C>G
3 papers
NM_025130.4
p.R337W
c.1009C>T
3 papers
NM_025130.4
p.P520L
c.1559C>T
3 papers
NM_025130.4
p.W721R
c.2161T>A
3 papers
NM_025130.4
p.W721R
c.2161T>C
3 papers
NM_025130.4
p.R827W
c.2479C>T
2 papers
NM_025130.4
p.T114M
c.341C>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."