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

1 paper

NM_025130.4

p.E672K

c.2014G>A

Surrounding Variants

1 paper

NM_025130.4

p.T663I

c.1988C>T

1 paper

NM_025130.4

p.M662L

c.1984A>C

1 paper

NM_025130.4

p.M662L

c.1984A>T

1 paper

NM_025130.4

p.D656A

c.1967A>C

1 paper

NM_025130.4

p.R637M

c.1910G>T

1 paper

NM_025130.4

p.K623R

c.1868A>G

1 paper

NM_025130.4

p.K620R

c.1859A>G

1 paper

NM_025130.4

p.T679A

c.2035A>G

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.G710R

c.2128G>A

1 paper

NM_025130.4

p.G710R

c.2128G>C