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.A350V

c.1049C>T

Surrounding Variants

1 paper

NM_025130.4

p.P363L

c.1088C>T

1 paper

NM_025130.4

p.N384I

c.1151A>T

4 papers

NM_025130.4

p.H420Y

c.1258C>T

2 papers

NM_025130.4

p.R426C

c.1276C>T

1 paper

NM_025130.4

p.E446A

c.1337A>C

1 paper

NM_025130.4

p.S449N

c.1346G>A

1 paper

NM_025130.4

p.K451R

c.1352A>G

3 papers

NM_025130.4

p.R337W

c.1009C>T

1 paper

NM_025130.4

p.D471N

c.1411G>A

1 paper

NM_025130.4

p.G322C

c.964G>T

1 paper

NM_025130.4

p.F477F

c.1431C>T

1 paper

NM_025130.4

p.R481Q

c.1442G>A