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.E125D

c.375G>T

Surrounding Variants

1 paper

NM_025130.4

p.E125D

c.375G>C

5 papers

NM_025130.4

p.T124I

c.371C>T

1 paper

NM_025130.4

p.G123R

c.367G>C

1 paper

NM_025130.4

p.T114T

c.342G>A

2 papers

NM_025130.4

p.T114M

c.341C>T

1 paper

NM_025130.4

p.E108Q

c.322G>C

1 paper

NM_025130.4

p.G101W

c.301G>T

1 paper

NM_025130.4

p.A98T

c.292G>A

1 paper

NM_025130.4

p.E125_L126Splc

c.376-2A>G

1 paper

NM_025130.4

p.F137F

c.411C>T

1 paper

NM_025130.4

p.M138L

c.412A>C

1 paper

NM_025130.4

p.M138L

c.412A>T