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.I402V

c.1204A>G

Surrounding Variants

1 paper

NM_004285.4

p.V399I

c.1195G>A

1 paper

NM_004285.4

p.G405D

c.1214G>A

2 papers

NM_004285.4

p.D406N

c.1216G>A

1 paper

NM_004285.4

p.Q397L

c.1190A>T

1 paper

NM_004285.4

p.L407P

c.1220T>C

1 paper

NM_004285.4

p.R396Q

c.1187G>A

1 paper

NM_004285.4

p.R396R

c.1186C>A

1 paper

NM_004285.4

p.R396W

c.1186C>T

2 papers

NM_004285.4

p.G408S

c.1222G>A

1 paper

NM_004285.4

p.G408D

c.1223G>A

1 paper

NM_004285.4

p.S409R

c.1225A>C

1 paper

NM_004285.4

p.S409R

c.1227C>A