Varaico: Literature-Extracted Genetic Variants

H6PD

957 papers

RefSeq Summary

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especiall...

Pfam Domains

G6PD_Naa 29–213UCSCGlucose-6-phosphate dehydrogenase, NAD binding domain

G6PD_Caa 215–514UCSCGlucose-6-phosphate dehydrogenase, C-terminal domain

Glucosamine_isoaa 558–782UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

HGNC Previous Symbol

GDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004285.4

p.A153T

c.457G>A

Surrounding Variants

1 paper

NM_004285.4

p.A153V

c.458C>T

6 papers

NM_004285.4

p.D151A

c.452A>C

1 paper

NM_004285.4

p.N155H

c.463A>C

1 paper

NM_004285.4

p.N155K

c.465C>G

1 paper

NM_004285.4

p.I156V

c.466A>G

1 paper

NM_004285.4

p.S158G

c.472A>G

2 papers

NM_004285.4

p.A148T

c.442G>A

2 papers

NM_004285.4

p.F147L

c.441C>A

1 paper

NM_004285.4

p.F147L

c.441C>G

1 paper

NM_004285.4

p.S158R

c.474T>A

1 paper

NM_004285.4

p.F147L

c.439T>C

1 paper

NM_004285.4

p.S159T

c.476G>C