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.R365delFs

c.1093delA

Surrounding Variants

3 papers

NM_004285.4

p.R365K

c.1094G>A

1 paper

NM_004285.4

p.D363V

c.1088A>T

1 paper

NM_004285.4

p.V366L

c.1096G>C

1 paper

NM_004285.4

p.V366L

c.1096G>T

3 papers

NM_004285.4

p.G359D

c.1076G>A

1 paper

NM_004285.4

p.S358F

c.1073C>T

1 paper

NM_004285.4

p.M357I

c.1071G>A

1 paper

NM_004285.4

p.M357I

c.1071G>C

1 paper

NM_004285.4

p.M357I

c.1071G>T

1 paper

NM_004285.4

p.L372L

c.1114T>C

1 paper

NM_004285.4

p.L356Q

c.1067T>A

1 paper

NM_004285.4

p.I355V

c.1063A>G