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.E383Q

c.1147G>C

Surrounding Variants

1 paper

NM_004285.4

p.Q381*

c.1141C>T

1 paper

NM_004285.4

p.A389T

c.1165G>A

1 paper

NM_004285.4

p.Q390P

c.1169A>C

1 paper

NM_004285.4

p.S391_L394delFs

c.1171_1181del11

1 paper

NM_004285.4

p.S391fs

c.1171_1172fs

1 paper

NM_004285.4

p.S391S

c.1173C>T

1 paper

NM_004285.4

p.Q392insFs

c.1175_1176insT

1 paper

NM_004285.4

p.C393S

c.1177T>A

3 papers

NM_004285.4

p.C393Y

c.1178G>A

1 paper

NM_004285.4

p.C393S

c.1178G>C

1 paper

NM_004285.4

p.C393F

c.1178G>T

1 paper

NM_004285.4

p.L372L

c.1114T>C