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

4 papers

NM_025130.4

p.N917K

c.2751C>A

Surrounding Variants

4 papers

NM_025130.4

p.N917K

c.2751C>G

1 paper

NM_025130.4

p.R909K

c.2726G>A

1 paper

NM_025130.4

p.G897R

c.2689G>A

1 paper

NM_025130.4

p.G897R

c.2689G>C

1 paper

NM_025130.4

p.S892P

c.2674T>C

1 paper

NM_025130.4

p.R884G

c.2650C>G

1 paper

NM_025130.4

p.R884*

c.2650C>T

1 paper

NM_025130.4

p.P883S

c.2647C>T

1 paper

NM_025130.4

p.K865R

c.2594A>G

1 paper

NM_025130.4

p.A839T

c.2515G>A

2 papers

NM_025130.4

p.A829V

c.2486C>T

3 papers

NM_025130.4

p.R827W

c.2479C>T