Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

3 papers

NM_025130.4

p.W721R

c.2161T>C

Surrounding Variants

3 papers

NM_025130.4

p.W721R

c.2161T>A

1 paper

NM_025130.4

p.W721*

c.2162G>A

2 papers

NM_025130.4

p.W721*

c.2163G>A

1 paper

NM_025130.4

p.R723Q

c.2168G>A

1 paper

NM_025130.4

p.G710R

c.2128G>A

1 paper

NM_025130.4

p.G710R

c.2128G>C

1 paper

NM_025130.4

p.L733M

c.2197T>A

1 paper

NM_025130.4

p.P735S

c.2203C>T

1 paper

NM_025130.4

p.N691K

c.2073C>A

1 paper

NM_025130.4

p.N691K

c.2073C>G

1 paper

NM_025130.4

p.T679A

c.2035A>G

1 paper

NM_025130.4

p.E672K

c.2014G>A