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.M1fs

c.1_2fs

Surrounding Variants

1 paper

NM_004285.4

p.M1L

c.1A>C

1 paper

NM_004285.4

p.M1V

c.1A>G

1 paper

NM_004285.4

p.M1L

c.1A>T

1 paper

NM_004285.4

p.M1T

c.2T>C

1 paper

NM_004285.4

p.M1I

c.3G>A

1 paper

NM_004285.4

p.M1I

c.3G>C

1 paper

NM_004285.4

p.M1I

c.3G>T

1 paper

NM_004285.4

p.W2*

c.5G>A

1 paper

NM_004285.4

p.N3delFs

c.8_9delAT

1 paper

NM_004285.4

p.N3_M4insFs

c.9_10insG

1 paper

NM_004285.4

p.L5H

c.14T>A

1 paper

NM_004285.4

p.A8_M9del2

c.22_26del6